Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
AGBL5	60509	broad.mit.edu	37	2	27282185	27282185	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:27282185C>G	ENST00000360131.4	+	11	2161	c.2002C>G	c.(2002-2004)Cct>Gct	p.P668A	AGBL5_ENST00000323064.8_Missense_Mutation_p.P668A	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	668					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCAGCTTTCCTTTTCATGG	0.587000													7	57					0	0	0.003080	0	0
RP1L1	94137	broad.mit.edu	37	8	10470657	10470657	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:10470657C>A	ENST00000382483.3	-	4	1174	c.951G>T	c.(949-951)gaG>gaT	p.E317D		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	317					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGCTGCCGTCCTCATTCATGC	0.667000													9	18					0.000442599	0.000493457	0.006214	1	0
TM9SF4	9777	broad.mit.edu	37	20	30738501	30738501	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr20:30738501C>G	ENST00000217315.5	+	11	1453	c.1113C>G	c.(1111-1113)ttC>ttG	p.F371L	TM9SF4_ENST00000398022.2_Missense_Mutation_p.F388L			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	388						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCTTCATGTTCATGGGGTAGG	0.617000													3	38					0	0	0.004672	0	0
GREB1	9687	broad.mit.edu	37	2	11756808	11756808	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:11756808A>T	ENST00000381486.2	+	21	3674	c.3374A>T	c.(3373-3375)cAc>cTc	p.H1125L	GREB1_ENST00000234142.5_Missense_Mutation_p.H1125L|GREB1_ENST00000396123.1_Missense_Mutation_p.H123L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1125	Ser-rich.					integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCCCGCTCCCACGACTCAGCA	0.537000													43	42					0	0	0.009718	0	0
NF1	4763	broad.mit.edu	37	17	29657351	29657351	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:29657351A>C	ENST00000358273.4	+	39	6030	c.5647A>C	c.(5647-5649)Acc>Ccc	p.T1883P	NF1_ENST00000356175.3_Missense_Mutation_p.T1862P|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1883					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTTAACTTGTACCTTTAATTT	0.358000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			14	18					0	0	0.024245	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886677	228886677	+	Silent	SNP	A	A	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:228886677A>G	ENST00000392056.3	-	6	493	c.447T>C	c.(445-447)ccT>ccC	p.P149P	SPHKAP_ENST00000344657.5_Silent_p.P149P	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	149						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGGCAGCCAAGGGCACTAAA	0.413000													3	15					0	0	0.004672	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249750	140249750	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:140249750G>T	ENST00000398640.2	+	1	1062	c.1062G>T	c.(1060-1062)ttG>ttT	p.L354F	PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTTCCTTGTCCCTCCCAG	0.572000													6	23					3.59834e-05	4.22849e-05	0.021553	1	0
TG	7038	broad.mit.edu	37	8	133895170	133895170	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:133895170G>T	ENST00000220616.4	+	8	1041	c.1001G>T	c.(1000-1002)gGg>gTg	p.G334V	TG_ENST00000377869.1_Missense_Mutation_p.G334V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	334	Thyroglobulin type-1 4.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGACGGAAGGGCCCTGCTGG	0.607000													4	41					0.014758	0.0155598	0.014758	1	0
MBIP	51562	broad.mit.edu	37	14	36785985	36785985	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:36785985T>C	ENST00000416007.4	-	2	250	c.163A>G	c.(163-165)Atc>Gtc	p.I55V	MBIP_ENST00000359527.7_Missense_Mutation_p.I55V|MBIP_ENST00000318473.7_Missense_Mutation_p.I55V	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	55					histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		TTCCAATCGATTGTAATTTTC	0.398000													17	58					0	0	0.004990	0	0
NRXN1	9378	broad.mit.edu	37	2	50699546	50699546	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:50699546G>T	ENST00000404971.1	-	17	4593	c.3254C>A	c.(3253-3255)gCc>gAc	p.A1085D	NRXN1_ENST00000406316.2_Missense_Mutation_p.A1045D|NRXN1_ENST00000402717.3_Missense_Mutation_p.A1037D|NRXN1_ENST00000401669.2_Missense_Mutation_p.A1045D|NRXN1_ENST00000406859.3_Missense_Mutation_p.A1045D|NRXN1_ENST00000401710.1_Missense_Mutation_p.A54D|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.A1037D	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1045	EGF-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.A1086D(1)|p.A1045D(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCTTCTTTGGCATGTACAAG	0.423000													10	38					1.76689e-08	2.35805e-08	0.006214	1	0
SLC39A12	221074	broad.mit.edu	37	10	18331729	18331729	+	Silent	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr10:18331729C>G	ENST00000377369.2	+	13	2316	c.2043C>G	c.(2041-2043)ctC>ctG	p.L681L	SLC39A12_ENST00000539911.1_Silent_p.L547L|SLC39A12_ENST00000377371.3_Silent_p.L680L|SLC39A12_ENST00000377374.4_Silent_p.L644L	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	681	Poly-Leu.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CTCTCCTGCTCTTGGCTATAT	0.353000													10	61					0	0	0.006214	0	0
NLRP5	126206	broad.mit.edu	37	19	56543981	56543981	+	Silent	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr19:56543981C>A	ENST00000390649.3	+	8	2281	c.2281C>A	c.(2281-2283)Cgg>Agg	p.R761R		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	761			R -> L (in dbSNP:rs17713875).			mitochondrion|nucleolus	ATP binding	p.R761W(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACATAGGATGCGGGATAAGAC	0.582000													3	11					0.00024832	0.000279896	0.009096	1	0
FGF14	2259	broad.mit.edu	37	13	103053860	103053860	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr13:103053860G>A	ENST00000376131.4	-	1	264	c.169C>T	c.(169-171)Ctt>Ttt	p.L57F	RP11-811P12.3_ENST00000418923.2_RNA	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	0					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGCCACAAAGACACTGCAGC	0.413000													31	39					0	0	0.017118	0	0
NAV3	89795	broad.mit.edu	37	12	78392159	78392159	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:78392159C>A	ENST00000397909.2	+	7	956	c.783C>A	c.(781-783)agC>agA	p.S261R	NAV3_ENST00000228327.6_Missense_Mutation_p.S261R|NAV3_ENST00000266692.7_Missense_Mutation_p.S261R|NAV3_ENST00000536525.2_Missense_Mutation_p.S261R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	261						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GAAGCAGCAGCAAGGTCCAGG	0.403000										HNSCC(70;0.22)			6	23					5.9392e-07	7.57433e-07	0.021553	1	0
PSKH2	85481	broad.mit.edu	37	8	87076703	87076703	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:87076703C>A	ENST00000276616.2	-	2	417	c.343G>T	c.(343-345)Gtt>Ttt	p.V115F	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	115	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CGATGGCTAACCCGCCGCAGG	0.507000													16	61					6.33239e-15	9.61238e-15	0.010504	1	0
OR2W5	441932	broad.mit.edu	37	1	247655361	247655361	+	RNA	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:247655361G>T	ENST00000522351.1	+	0	992							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G311D(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GGAGAAAGGGGCTGGGGAGCC	0.488000													22	86					1.85244e-09	2.57264e-09	0.018920	1	0
CUL9	23113	broad.mit.edu	37	6	43152637	43152637	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:43152637G>T	ENST00000252050.4	+	2	673	c.589G>T	c.(589-591)Gat>Tat	p.D197Y	CUL9_ENST00000354495.3_Missense_Mutation_p.D197Y|CUL9_ENST00000372647.2_Missense_Mutation_p.D197Y	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	197					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGCAGCCCACGATGCTGGTAA	0.537000													6	30					2.0095e-06	2.50055e-06	0.001984	1	0
ANKRD34A	284615	broad.mit.edu	37	1	145474737	145474737	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:145474737G>T	ENST00000323397.4	+	4	2702	c.1409G>T	c.(1408-1410)aGa>aTa	p.R470I		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	470										endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAATTGGTGAGACGCCACTCC	0.662000													14	27					3.45872e-05	4.12518e-05	0.028581	1	0
PAWR	5074	broad.mit.edu	37	12	79986434	79986434	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:79986434G>A	ENST00000328827.4	-	7	1348	c.976C>T	c.(976-978)Cag>Tag	p.Q326*		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	326	Leucine-zipper.				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TTATTTTCCTGCTTTAGCTGT	0.303000													6	24					0	0	0.021553	0	0
KLHL38	340359	broad.mit.edu	37	8	124663935	124663935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:124663935C>T	ENST00000325995.7	-	1	1255	c.1232G>A	c.(1231-1233)tGg>tAg	p.W411*	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	411										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CATACTCTCCCAGACATTGCA	0.547000													23	71					0	0	0.018920	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800734	185800734	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:185800734C>A	ENST00000302277.6	+	4	1205	c.611C>A	c.(610-612)gCc>gAc	p.A204D		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	204						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GGGGATCAAGCCCAGGGGATT	0.413000													31	53					1.45844e-13	2.17252e-13	0.013726	1	0
MEGF10	84466	broad.mit.edu	37	5	126667082	126667082	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:126667082C>T	ENST00000274473.6	+	3	349	c.82C>T	c.(82-84)Ctt>Ttt	p.L28F	MEGF10_ENST00000418761.2_Missense_Mutation_p.L28F|MEGF10_ENST00000508365.1_Missense_Mutation_p.L28F|MEGF10_ENST00000503335.2_Missense_Mutation_p.L28F	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	28	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ACCTCTGAATCTTGAAGACCC	0.383000													21	48					0	0	0.010504	0	0
ATL2	64225	broad.mit.edu	37	2	38546131	38546131	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:38546131C>T	ENST00000378954.4	-	3	395	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	ATL2_ENST00000402054.1_5'UTR|ATL2_ENST00000452935.2_Missense_Mutation_p.E114K|ATL2_ENST00000406122.1_5'UTR|ATL2_ENST00000539122.1_5'UTR|ATL2_ENST00000332337.4_Missense_Mutation_p.E114K|ATL2_ENST00000546051.1_5'UTR|ATL2_ENST00000419554.2_Missense_Mutation_p.E132K	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	132					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						GTCAATGGTTCATTGTTTCCA	0.358000													5	188					0	0	0.014758	0	0
PVRIG	79037	broad.mit.edu	37	7	99817788	99817788	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:99817788C>A	ENST00000317271.2	+	3	533	c.170C>A	c.(169-171)tCc>tAc	p.S57Y	GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	57						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGCTCTCGTCCTTCACCATC	0.647000													4	14					0.00909568	0.00964653	0.009096	1	0
SLC10A6	345274	broad.mit.edu	37	4	87770057	87770057	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:87770057C>A	ENST00000273905.6	-	1	359	c.212G>T	c.(211-213)gGa>gTa	p.G71V	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	71						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GCAGAGCAGTCCCACAGCAAT	0.532000													8	44					0.00307968	0.00332013	0.003080	1	0
OR2A12	346525	broad.mit.edu	37	7	143793059	143793059	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:143793059C>A	ENST00000408949.2	+	1	919	c.859C>A	c.(859-861)Ctc>Atc	p.L287I		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CCTGAACCCCCTCATCTACAG	0.468000													190	337					2.99135e-77	5.16295e-77	0.014410	1	0
GJD4	219770	broad.mit.edu	37	10	35896733	35896733	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr10:35896733C>T	ENST00000321660.1	+	2	450	c.292C>T	c.(292-294)Cac>Tac	p.H98Y		NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	98					cell communication	connexon complex|integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTATGTCCTGCACCGAGGAGC	0.726000													8	42					0	0	0.003080	0	0
LAMB4	22798	broad.mit.edu	37	7	107692543	107692543	+	Splice_Site	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:107692543C>A	ENST00000388781.3	-	26	3998	c.3916_splice	c.e26+1	p.A1305_splice	LAMB4_ENST00000388780.3_Splice_Site_p.A1305_splice|LAMB4_ENST00000205386.4_Splice_Site_p.A1305_splice	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1305	Domain II.				cell adhesion	basement membrane		p.A1305A(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTCCCTTACCCGCAATGCTTG	0.408000													28	76					9.39395e-14	1.40518e-13	0.006320	1	0
EMID1	129080	broad.mit.edu	37	22	29654850	29654850	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr22:29654850C>A	ENST00000334018.6	+	15	1437	c.1249C>A	c.(1249-1251)Ccc>Acc	p.P417T	EMID1_ENST00000404755.3_Missense_Mutation_p.P396T|EMID1_ENST00000404820.3_Missense_Mutation_p.P419T	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	415						collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						CACAGGCACCCCCAGCCTCCT	0.682000													3	16					0.00116845	0.00127693	0.021553	1	0
OR2M3	127062	broad.mit.edu	37	1	248366583	248366583	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:248366583A>T	ENST00000456743.1	+	1	252	c.214A>T	c.(214-216)Atg>Ttg	p.M72L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATGGACCTCATGCTCATCTG	0.517000													77	242					0	0	0.014410	0	0
JMJD1C	221037	broad.mit.edu	37	10	64974357	64974357	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr10:64974357C>T	ENST00000399262.2	-	8	1788	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	JMJD1C_ENST00000542921.1_Missense_Mutation_p.E342K|JMJD1C_ENST00000399251.1_Missense_Mutation_p.E305K|JMJD1C_ENST00000402544.1_Missense_Mutation_p.E305K	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	524					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTTGAGTTTTCCTGAGCCACC	0.373000													10	77					0	0	0.006214	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984273	41984273	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:41984273G>A	ENST00000333141.5	+	1	561	c.464G>A	c.(463-465)tGt>tAt	p.C155Y		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	155										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GCTCCAAGCTGTGCAGTGCTG	0.572000													16	77					0	0	0.024245	0	0
MRTO4	51154	broad.mit.edu	37	1	19584405	19584405	+	Silent	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:19584405G>T	ENST00000330263.4	+	6	717	c.420G>T	c.(418-420)ggG>ggT	p.G140G		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	140					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGGATCCAGGGCCCCTGGAGC	0.577000													4	31					0.00024832	0.000279896	0.009096	1	0
TNKS1BP1	85456	broad.mit.edu	37	11	57080341	57080341	+	Silent	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:57080341G>C	ENST00000532437.1	-	4	2132	c.1821C>G	c.(1819-1821)acC>acG	p.T607T	TNKS1BP1_ENST00000358252.3_Silent_p.T607T			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	607	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGCCTCCCTGGTAGCCAGGG	0.637000													9	18					0	0	0.013537	0	0
OR5B2	390190	broad.mit.edu	37	11	58189978	58189978	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:58189978C>A	ENST00000302581.2	-	1	808	c.757G>T	c.(757-759)Gta>Tta	p.V253L		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGAAGATTACTGTCCCATAG	0.478000													23	68					3.62473e-10	5.12315e-10	0.012319	1	0
ZNF292	23036	broad.mit.edu	37	6	87965088	87965088	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:87965088A>G	ENST00000369577.3	+	8	1784	c.1741A>G	c.(1741-1743)Aaa>Gaa	p.K581E	ZNF292_ENST00000339907.4_Missense_Mutation_p.K576E	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	581					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CTTTAATTCTAAAGAAACTTT	0.368000													13	77					0	0	0.013537	0	0
MARCH6	10299	broad.mit.edu	37	5	10415778	10415778	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:10415778C>T	ENST00000274140.5	+	21	2277	c.2145C>T	c.(2143-2145)ctC>ctT	p.L715L	MARCH6_ENST00000449913.2_Silent_p.L667L|MARCH6_ENST00000510792.1_Silent_p.L413L|MARCH6_ENST00000503788.1_Silent_p.L610L	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	715					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						AGTGGTCTCTCATGGTATGTG	0.398000													5	79					0	0	0.014758	0	0
DGKB	1607	broad.mit.edu	37	7	14620523	14620523	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:14620523C>G	ENST00000403951.2	-	19	1995	c.1576G>C	c.(1576-1578)Ggc>Cgc	p.G526R	DGKB_ENST00000399322.3_Missense_Mutation_p.G526R|DGKB_ENST00000406247.3_Missense_Mutation_p.G526R|DGKB_ENST00000258767.5_Missense_Mutation_p.G526R|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Missense_Mutation_p.G507R|DGKB_ENST00000407950.1_Missense_Mutation_p.G518R|DGKB_ENST00000402815.1_Missense_Mutation_p.G525R			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	526	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	AGATCATTGCCAGTCCCAAGA	0.418000													11	54					0	0	0.013537	0	0
TIAM1	7074	broad.mit.edu	37	21	32524991	32524991	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr21:32524991G>T	ENST00000286827.3	-	20	3800	c.3329C>A	c.(3328-3330)cCt>cAt	p.P1110H	TIAM1_ENST00000541036.1_Missense_Mutation_p.P1050H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1110	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TTCCAAATCAGGTACCAGTCT	0.398000													21	47					6.33239e-15	9.61238e-15	0.010504	1	0
FMO2	2327	broad.mit.edu	37	1	171162565	171162565	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:171162565C>T	ENST00000441535.1	+	3	341	c.224C>T	c.(223-225)cCt>cTt	p.P75L	FMO2_ENST00000209929.7_Missense_Mutation_p.P75L|RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000529935.1_3'UTR	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	75					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTTCCAATGCCTGAAGATTTT	0.368000													13	52					0	0	0.016723	0	0
EXTL3	2137	broad.mit.edu	37	8	28573653	28573653	+	Missense_Mutation	SNP	G	G	T	rs146905864		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:28573653G>T	ENST00000220562.4	+	3	979	c.77G>T	c.(76-78)cGc>cTc	p.R26L	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	26						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TGGTCCAACCGCATCCGCCTC	0.607000													18	33					3.32936e-07	4.26871e-07	0.006122	1	0
OR10G4	390264	broad.mit.edu	37	11	123886982	123886982	+	Missense_Mutation	SNP	G	G	T	rs145730171		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:123886982G>T	ENST00000320891.4	+	1	701	c.701G>T	c.(700-702)cGc>cTc	p.R234L		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GATGGGAGGCGCAGAGCCTTT	0.537000													24	68					5.45024e-15	8.32611e-15	0.018920	1	0
DDX11	1663	broad.mit.edu	37	12	31254893	31254893	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:31254893G>T	ENST00000407793.2	+	21	2430	c.2179G>T	c.(2179-2181)Ggc>Tgc	p.G727C	DDX11_ENST00000545668.1_Missense_Mutation_p.G727C|DDX11_ENST00000350437.4_Intron|DDX11_ENST00000228264.6_Missense_Mutation_p.G701C|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Missense_Mutation_p.G727C	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	727					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGGCCTGCTGGGCCGTCTGGC	0.627000										Multiple Myeloma(12;0.14)			3	10					0.000602214	0.0006683	0.014758	1	0
TNC	3371	broad.mit.edu	37	9	117840453	117840453	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr9:117840453T>C	ENST00000350763.4	-	7	2854	c.2443A>G	c.(2443-2445)Aca>Gca	p.T815A	TNC_ENST00000340094.3_Missense_Mutation_p.T815A|TNC_ENST00000345230.3_Missense_Mutation_p.T815A|TNC_ENST00000542877.1_Missense_Mutation_p.T815A|TNC_ENST00000537320.1_Missense_Mutation_p.T815A|TNC_ENST00000535648.1_Missense_Mutation_p.T815A|TNC_ENST00000341037.4_Missense_Mutation_p.T815A|TNC_ENST00000346706.3_Missense_Mutation_p.T815A|TNC_ENST00000423613.2_Missense_Mutation_p.T815A	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	815	Fibronectin type-III 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTGGTGTCTGTGACATCTTTC	0.562000													23	38					0	0	0.014323	0	0
RP1L1	94137	broad.mit.edu	37	8	10466368	10466368	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:10466368T>A	ENST00000382483.3	-	4	5463	c.5240A>T	c.(5239-5241)gAg>gTg	p.E1747V		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1747					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGGCTCCCCTCGCCATCCTC	0.622000													30	27					0	0	0.010818	0	0
KRT5	3852	broad.mit.edu	37	12	52910607	52910607	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:52910607T>A	ENST00000252242.4	-	7	1643	c.1253A>T	c.(1252-1254)gAg>gTg	p.E418V		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	418	Coil 2.|Rod.		E -> K (in K-EBS).		epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCCACGCTGCTCGGCATCCGC	0.617000													20	76					0	0	0.012319	0	0
SCN3A	6328	broad.mit.edu	37	2	165947017	165947017	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:165947017G>T	ENST00000360093.3	-	28	6137	c.5646C>A	c.(5644-5646)aaC>aaA	p.N1882K	SCN3A_ENST00000409101.3_Missense_Mutation_p.N1833K|SCN3A_ENST00000540861.1_Missense_Mutation_p.N365K|SCN3A_ENST00000283254.7_Missense_Mutation_p.N1882K|AC013463.2_ENST00000431341.1_RNA	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1882						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CTTTGGAGGGGTTTGATGCCA	0.413000													7	54					1.12685e-05	1.37132e-05	0.004482	1	0
PLXNA4	91584	broad.mit.edu	37	7	131888148	131888148	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:131888148G>T	ENST00000359827.3	-	11	3291	c.2329C>A	c.(2329-2331)Ctg>Atg	p.L777M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L777M			Q9HCM2	PLXA4_HUMAN	plexin A4	777						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCCACGGGCAGGTTGTTGATC	0.542000													17	86					3.51602e-12	5.11032e-12	0.008871	1	0
ELMOD1	55531	broad.mit.edu	37	11	107518319	107518319	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:107518319C>A	ENST00000265840.7	+	7	811	c.546C>A	c.(544-546)taC>taA	p.Y182*	ELMOD1_ENST00000443271.2_Nonsense_Mutation_p.Y182*|ELMOD1_ENST00000531234.1_Nonsense_Mutation_p.Y176*	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	182	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		TGGGACTGTACAATTTGCAGT	0.408000													5	19					4.096e-09	5.63396e-09	0.021553	1	0
QRFPR	84109	broad.mit.edu	37	4	122254118	122254118	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:122254118G>T	ENST00000394427.2	-	4	1066	c.655C>A	c.(655-657)Ctt>Att	p.L219I	QRFPR_ENST00000334383.5_Missense_Mutation_p.L219I	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	219						plasma membrane	neuropeptide Y receptor activity	p.L219F(1)		endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						AGGATGACAAGGATGAAGGTG	0.413000													30	75					3.1745e-13	4.70927e-13	0.008361	1	0
KIF9	64147	broad.mit.edu	37	3	47278048	47278048	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:47278048C>A	ENST00000335044.2	-	18	2343	c.1986G>T	c.(1984-1986)aaG>aaT	p.K662N	KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000265529.3_Missense_Mutation_p.K662N|KIF9_ENST00000352910.4_Missense_Mutation_p.K504N|KIF9_ENST00000452770.2_Missense_Mutation_p.K662N|KIF9_ENST00000444589.2_Missense_Mutation_p.K597N	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	662					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGTCTTTGAGCTTGAGGATCA	0.522000													3	20					6.4e-05	7.42522e-05	0.004672	1	0
ZNF284	342909	broad.mit.edu	37	19	44590210	44590210	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr19:44590210T>A	ENST00000421176.3	+	5	795	c.579T>A	c.(577-579)caT>caA	p.H193Q	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				TTTGTCTTCATCAGAAAGTTC	0.398000													16	29					0	0	0.024245	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077943	19077943	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:19077943G>T	ENST00000329773.2	-	2	94	c.7C>A	c.(7-9)Cca>Aca	p.P3T		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	3					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GGGGTGGTTGGATCCATGCTC	0.507000													89	295					3.39216e-54	5.81282e-54	0.014410	1	0
OSBP	5007	broad.mit.edu	37	11	59344401	59344401	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:59344401C>G	ENST00000263847.1	-	13	2637	c.2158G>C	c.(2158-2160)Gac>Cac	p.D720H		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	720					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AGTCTCTGGTCAGGTCGTAAC	0.498000													43	188					0	0	0.010771	0	0
CUBN	8029	broad.mit.edu	37	10	16957945	16957945	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr10:16957945A>G	ENST00000377833.4	-	46	7150	c.7085T>C	c.(7084-7086)tTc>tCc	p.F2362S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2362	CUB 17.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCACTCACAGAATAAGTTGTC	0.438000													22	124					0	0	0.018920	0	0
ANK2	287	broad.mit.edu	37	4	114253221	114253221	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:114253221C>G	ENST00000357077.4	+	28	3272	c.3219C>G	c.(3217-3219)ttC>ttG	p.F1073L	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Missense_Mutation_p.F1064L|ANK2_ENST00000394537.3_Missense_Mutation_p.F1073L|ANK2_ENST00000264366.6_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1040	Interaction with SPTBN1.|ZU5.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAACCAAATTCCTTGGGTAGG	0.478000													10	79					0	0	0.008291	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140535	3140535	+	Silent	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr16:3140535C>A	ENST00000252463.2	-	5	822	c.735G>T	c.(733-735)ccG>ccT	p.P245P	ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Silent_p.P163P	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	245					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AAGGCTCTCCCGGCACCCCAG	0.602000													8	20					1.06961e-07	1.39887e-07	0.003080	1	0
RGMB	285704	broad.mit.edu	37	5	98128924	98128924	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:98128924G>A	ENST00000308234.7	+	5	1306	c.904G>A	c.(904-906)Gtg>Atg	p.V302M	RGMB_ENST00000513185.1_Missense_Mutation_p.V261M	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	261					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding	p.V302L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CCTGCGTATCGTGGAAAGGGA	0.587000													9	37					0	0	0.006214	0	0
BBS2	583	broad.mit.edu	37	16	56531699	56531699	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr16:56531699C>T	ENST00000245157.5	-	14	2173	c.1753G>A	c.(1753-1755)Gat>Aat	p.D585N	BBS2_ENST00000568104.1_Intron	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	585					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						ACAGGAAAATCCGCTTCTACT	0.373000									Bardet-Biedl syndrome				16	88					0	0	0.004990	0	0
ENAH	55740	broad.mit.edu	37	1	225688728	225688728	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:225688728T>A	ENST00000366844.2	-	13	2097	c.1646A>T	c.(1645-1647)cAg>cTg	p.Q549L	ENAH_ENST00000366843.2_Missense_Mutation_p.Q528L|ENAH_ENST00000284563.6_Missense_Mutation_p.Q775L	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	549	EVH2.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TCCTTCCGTCTGGACTCCATT	0.408000													19	40					0	0	0.008871	0	0
PXDNL	137902	broad.mit.edu	37	8	52320774	52320774	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:52320774G>T	ENST00000356297.4	-	17	3510	c.3410C>A	c.(3409-3411)tCg>tAg	p.S1137*	PXDNL_ENST00000543296.1_Nonsense_Mutation_p.S1137*	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1137					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGTGGCAGCCGAATCCACGGC	0.522000													22	39					1.85244e-09	2.57264e-09	0.018920	1	0
TXNDC2	84203	broad.mit.edu	37	18	9887622	9887622	+	Silent	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr18:9887622C>A	ENST00000306084.6	+	2	1345	c.1146C>A	c.(1144-1146)atC>atA	p.I382I	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Silent_p.I315I	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	382	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AACAAGCCATCCAGCCCAAGG	0.552000													31	138					2.08457e-15	3.21185e-15	0.010818	1	0
CUL9	23113	broad.mit.edu	37	6	43152442	43152442	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:43152442G>A	ENST00000252050.4	+	2	478	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	CUL9_ENST00000354495.3_Missense_Mutation_p.E132K|CUL9_ENST00000372647.2_Missense_Mutation_p.E132K	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	132					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	p.E132K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCAGCTGGCAGAAAGTGGGAC	0.622000													11	98					0	0	0.010729	0	0
POTEH	23784	broad.mit.edu	37	22	16267010	16267010	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr22:16267010T>C	ENST00000343518.6	-	9	1490	c.1439A>G	c.(1438-1440)gAt>gGt	p.D480G		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	480										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TAATCCATCATCACCATTGTC	0.423000													21	809					0	0	0.014323	0	0
FLG	2312	broad.mit.edu	37	1	152281636	152281636	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:152281636C>T	ENST00000368799.1	-	3	5761	c.5726G>A	c.(5725-5727)aGg>aAg	p.R1909K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1909	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGCTTGTCCTGGGCCCTGA	0.592000									Ichthyosis				22	141					0	0	0.012319	0	0
AE000661.37	0	broad.mit.edu	37	14	22891576	22891576	+	RNA	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:22891576T>A	ENST00000514473.2	-	0	225				AE000661.37_ENST00000537850.1_RNA|TRDV2_ENST00000390469.2_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000541008.1_RNA																							CTCTCTCTTCTGGGCAGGTAA	0.552000													9	24					0	0	0.004482	0	0
DSE	29940	broad.mit.edu	37	6	116758311	116758311	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:116758311C>T	ENST00000331677.3	+	7	3124	c.2680C>T	c.(2680-2682)Cca>Tca	p.P894S	DSE_ENST00000359564.2_Missense_Mutation_p.P894S|DSE_ENST00000452085.3_Missense_Mutation_p.P894S|DSE_ENST00000537543.1_Missense_Mutation_p.P913S			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	894					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CAGCAGGGCCCCATCACTGTC	0.453000													12	47					0	0	0.010729	0	0
CLEC9A	283420	broad.mit.edu	37	12	10205373	10205373	+	Silent	SNP	T	T	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:10205373T>C	ENST00000355819.1	+	4	700	c.87T>C	c.(85-87)tgT>tgC	p.C29C	CLEC9A_ENST00000544751.1_3'UTR	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	29					positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						CCAACAAATGTTCAGGTAACC	0.388000													17	28					0	0	0.004990	0	0
ZNF654	55279	broad.mit.edu	37	3	88188515	88188515	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:88188515C>T	ENST00000309495.5	+	1	262	c.55C>T	c.(55-57)Cat>Tat	p.H19Y	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TGCCCAGGCTCATCAGAAAAA	0.378000													9	40					0	0	0.004482	0	0
NUP214	8021	broad.mit.edu	37	9	134026140	134026140	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr9:134026140A>C	ENST00000359428.5	+	16	2409	c.2265A>C	c.(2263-2265)aaA>aaC	p.K755N	RP11-544A12.4_ENST00000415391.2_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.K745N|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.K756N			P35658	NU214_HUMAN	nucleoporin 214kDa	755	11 X 5 AA approximate repeats.|Leucine-zipper 1.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TGGAGATTAAAGAGACCACAG	0.398000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								31	51					0	0	0.012213	0	0
GRIK1	2897	broad.mit.edu	37	21	30949368	30949368	+	Silent	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr21:30949368G>T	ENST00000399914.1	-	13	2522	c.2001C>A	c.(1999-2001)ccC>ccA	p.P667P	GRIK1_ENST00000399913.1_Silent_p.P682P|GRIK1_ENST00000399909.1_Silent_p.P667P|GRIK1_ENST00000309434.7_Silent_p.P684P|GRIK1_ENST00000399907.1_Silent_p.P682P|GRIK1_ENST00000327783.4_Silent_p.P682P|GRIK1_ENST00000389124.2_Silent_p.P682P|GRIK1_ENST00000389125.3_Silent_p.P667P|GRIK1_ENST00000535441.1_Silent_p.P684P			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	682					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CCGAATCTATGGGGGATTCCA	0.443000													25	32					6.32553e-13	9.32594e-13	0.024334	1	0
FAIM	55179	broad.mit.edu	37	3	138351858	138351858	+	Silent	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:138351858G>C	ENST00000338446.4	+	6	1262	c.579G>C	c.(577-579)cgG>cgC	p.R193R	FAIM_ENST00000393034.2_Silent_p.R159R|FAIM_ENST00000393035.2_Silent_p.R159R|FAIM_ENST00000464668.1_Silent_p.R159R|FAIM_ENST00000360570.3_Silent_p.R181R	NM_001033030.1	NP_001028202.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	159					apoptosis	cytoplasm				kidney(1)|upper_aerodigestive_tract(1)	2						GTGGGAAGCGGAAAGAAGGGA	0.388000													5	30					0	0	0.014758	0	0
CUL9	23113	broad.mit.edu	37	6	43152183	43152183	+	Silent	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:43152183G>A	ENST00000252050.4	+	2	219	c.135G>A	c.(133-135)ctG>ctA	p.L45L	CUL9_ENST00000354495.3_Silent_p.L45L|CUL9_ENST00000372647.2_Silent_p.L45L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	45					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGAGTGTCCTGAAGTGTGGGG	0.582000													10	60					0	0	0.006214	0	0
MAGI2	9863	broad.mit.edu	37	7	77756547	77756547	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:77756547C>A	ENST00000354212.4	-	19	3643	c.3390G>T	c.(3388-3390)agG>agT	p.R1130S	MAGI2_ENST00000419488.1_Missense_Mutation_p.R1116S|MAGI2_ENST00000522391.1_Missense_Mutation_p.R1130S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1130						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GAGGGTACTGCCTGGTGTCGG	0.602000													15	123					5.3912e-06	6.6169e-06	0.006122	1	0
GRB10	2887	broad.mit.edu	37	7	50742190	50742190	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:50742190T>A	ENST00000403097.1	-	5	1067	c.287A>T	c.(286-288)cAg>cTg	p.Q96L	GRB10_ENST00000335866.3_Missense_Mutation_p.Q44L|GRB10_ENST00000402578.1_Missense_Mutation_p.Q44L|GRB10_ENST00000401949.1_Missense_Mutation_p.Q102L|GRB10_ENST00000398810.2_Missense_Mutation_p.Q44L|GRB10_ENST00000406641.1_Missense_Mutation_p.Q44L|GRB10_ENST00000398812.2_Missense_Mutation_p.Q102L|GRB10_ENST00000439599.1_Missense_Mutation_p.Q96L|GRB10_ENST00000407526.1_Missense_Mutation_p.Q44L|GRB10_ENST00000357271.5_Missense_Mutation_p.Q102L|GRB10_ENST00000402497.1_Missense_Mutation_p.Q44L			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	102					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CGGGGACACCTGTGGCTGGAT	0.652000									Russell-Silver syndrome				5	31					0	0	0.014758	0	0
TTF2	8458	broad.mit.edu	37	1	117626662	117626662	+	Silent	SNP	T	T	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:117626662T>C	ENST00000369466.3	+	11	1970	c.1926T>C	c.(1924-1926)caT>caC	p.H642H		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	642	Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TTACTTCCCATGGAACACTAA	0.393000													20	68					0	0	0.012319	0	0
GPR65	8477	broad.mit.edu	37	14	88477441	88477441	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:88477441C>A	ENST00000267549.3	+	2	808	c.250C>A	c.(250-252)Cct>Act	p.P84T	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	84					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	p.P84S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						GACTTTCTCTCCTGCCTTGTG	0.403000													49	103					5.7616e-29	9.71087e-29	0.014410	1	0
LGALS9	3965	broad.mit.edu	37	17	25974145	25974145	+	Splice_Site	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:25974145G>A	ENST00000395473.2	+	9	2226		c.e9+1		LGALS9_ENST00000413914.2_Splice_Site|LGALS9_ENST00000313648.6_Splice_Site|LGALS9_ENST00000310394.5_Splice_Site|LGALS9_ENST00000302228.5_Splice_Site	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9						positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GTGCTCAGAGGTAAGCCAAGG	0.572000													7	21					0	0	0.003080	0	0
KLHL1	57626	broad.mit.edu	37	13	70456616	70456616	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr13:70456616C>A	ENST00000377844.4	-	5	1785	c.1026G>T	c.(1024-1026)atG>atT	p.M342I	KLHL1_ENST00000545028.1_Missense_Mutation_p.M149I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	342					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGATAACTTCCATTATGTTTT	0.358000													8	23					3.09899e-07	3.99474e-07	0.004482	1	0
PABPC5	140886	broad.mit.edu	37	X	90690787	90690787	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chrX:90690787G>T	ENST00000312600.3	+	2	425	c.211G>T	c.(211-213)Gat>Tat	p.D71Y	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	71	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CTTTCCCGCGGATGCAGAGTG	0.537000													16	8					3.32936e-07	4.26871e-07	0.006122	1	0
ZNF106	64397	broad.mit.edu	37	15	42742934	42742934	+	Silent	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr15:42742934G>C	ENST00000263805.4	-	2	1793	c.1467C>G	c.(1465-1467)ccC>ccG	p.P489P	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		GCTTGTTCGAGGGATTTGAGT	0.383000													57	107					0	0	0.014410	0	0
ZP4	57829	broad.mit.edu	37	1	238048719	238048719	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:238048719G>T	ENST00000366570.4	-	8	1290	c.1132C>A	c.(1132-1134)Cag>Aag	p.Q378K	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	378	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CACTGTGGCTGACTCAGGGGG	0.542000													10	54					2.17888e-05	2.61611e-05	0.006214	1	0
SI	6476	broad.mit.edu	37	3	164704960	164704960	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:164704960C>T	ENST00000264382.3	-	45	5225	c.5163G>A	c.(5161-5163)caG>caA	p.Q1721Q		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1721	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACAGAGAACCCTGTGCCATCT	0.338000										HNSCC(35;0.089)			11	60					0	0	0.016723	0	0
GABBR2	9568	broad.mit.edu	37	9	101216263	101216263	+	Splice_Site	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr9:101216263C>T	ENST00000259455.2	-	7	1695	c.1236_splice	c.e7+1	p.T412_splice		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	412					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TGGGACTGACCGTGACCCCGA	0.522000													6	98					0	0	0.001984	0	0
CEP85	64793	broad.mit.edu	37	1	26582344	26582344	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:26582344G>T	ENST00000252992.4	+	4	1022	c.891G>T	c.(889-891)atG>atT	p.M297I	CEP85_ENST00000451429.2_Missense_Mutation_p.M246I	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	297						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GTTTACAGATGGAGCAAATGC	0.448000													6	52					0.00307968	0.00332013	0.003080	1	0
TMPRSS11E	28983	broad.mit.edu	37	4	69342025	69342025	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:69342025C>G	ENST00000305363.4	+	7	640	c.576C>G	c.(574-576)atC>atG	p.I192M		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	192	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						GTCTCAGGATCGTTGGTGGGA	0.512000													92	179					0	0	0.014410	0	0
KIAA0556	23247	broad.mit.edu	37	16	27751806	27751806	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr16:27751806C>G	ENST00000261588.4	+	15	2207	c.2188C>G	c.(2188-2190)Ccc>Gcc	p.P730A		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	730										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CCATGAGGAGCCCTCTCTCAT	0.557000													40	171					0	0	0.007835	0	0
TAB1	10454	broad.mit.edu	37	22	39813817	39813817	+	Silent	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr22:39813817G>A	ENST00000216160.6	+	5	575	c.513G>A	c.(511-513)gcG>gcA	p.A171A	TAB1_ENST00000331454.3_Silent_p.A171A	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	171	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CCGTTGTGGCGGTCCTTCTCA	0.602000													18	32					0	0	0.006122	0	0
OR13G1	441933	broad.mit.edu	37	1	247835664	247835664	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:247835664G>T	ENST00000359688.2	-	1	701	c.680C>A	c.(679-681)aCa>aAa	p.T227K	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCCTTCTACTGTGCGGATACG	0.453000													15	77					2.31682e-05	2.77246e-05	0.024245	1	0
KRT38	8687	broad.mit.edu	37	17	39597020	39597020	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:39597020C>T	ENST00000246646.3	-	1	153	c.154G>A	c.(154-156)Gcc>Acc	p.A52T		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	52	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				ACTCGGTTGGCATGTGCCACG	0.627000													3	26					0	0	0.004672	0	0
PRKAR1A	5573	broad.mit.edu	37	17	66518895	66518895	+	Splice_Site	SNP	A	A	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:66518895A>T	ENST00000589228.1	+	3	305		c.e3-1		PRKAR1A_ENST00000586397.1_Splice_Site|PRKAR1A_ENST00000392711.1_Splice_Site|PRKAR1A_ENST00000588188.2_Splice_Site|PRKAR1A_ENST00000536854.2_Splice_Site|PRKAR1A_ENST00000358598.2_Splice_Site	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha						activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding	p.?(1)		adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					AATTTCTTTCAGGAGGAGGCA	0.448000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				7	17					0	0	0.003080	0	0
IGKV1-17	28937	broad.mit.edu	37	2	89416835	89416835	+	RNA	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:89416835G>C	ENST00000490686.1	-	0	375																											ACTGTGGGAGGGTAACTATTA	0.522000													30	106					0	0	0.008740	0	0
FOLH1B	219595	broad.mit.edu	37	11	89405080	89405080	+	RNA	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:89405080C>A	ENST00000532352.1	+	0	1020							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TGGGAGGTCACCGGGACTCAT	0.413000													23	92					5.45024e-15	8.32611e-15	0.018920	1	0
C2CD5	9847	broad.mit.edu	37	12	22635520	22635520	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:22635520C>A	ENST00000333957.4	-	14	1963	c.1708G>T	c.(1708-1710)Gtg>Ttg	p.V570L	C2CD5_ENST00000536386.1_Missense_Mutation_p.V572L|C2CD5_ENST00000544930.1_Missense_Mutation_p.V385L|C2CD5_ENST00000545552.1_Missense_Mutation_p.V583L|C2CD5_ENST00000542676.1_Missense_Mutation_p.V570L|C2CD5_ENST00000396028.2_Missense_Mutation_p.V561L|C2CD5_ENST00000446597.1_Missense_Mutation_p.V570L	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		TTTTCACCCACTGTGATCTGA	0.318000													9	53					7.48243e-07	9.4751e-07	0.006214	1	0
GHR	2690	broad.mit.edu	37	5	42689017	42689017	+	Silent	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:42689017C>A	ENST00000230882.4	+	4	352	c.162C>A	c.(160-162)acC>acA	p.T54T	GHR_ENST00000537449.1_Intron|GHR_ENST00000357703.3_Silent_p.T32T	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	54					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CTAAATTCACCAAGTGCCGTT	0.423000													121	148					1.45844e-59	2.51118e-59	0.014410	1	0
ANXA7	310	broad.mit.edu	37	10	75139842	75139842	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr10:75139842G>A	ENST00000372921.4	-	10	1092	c.1036C>T	c.(1036-1038)Ctt>Ttt	p.L346F	ANXA7_ENST00000535178.1_Missense_Mutation_p.L216F	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	368							calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					CTTGTGGCAAGGATCATGTTA	0.453000													83	272					0	0	0.014410	0	0
CPA5	93979	broad.mit.edu	37	7	130008321	130008321	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:130008321C>A	ENST00000431780.2	+	11	1554	c.1109C>A	c.(1108-1110)tCc>tAc	p.S370Y	CPA5_ENST00000461828.1_Silent_p.L398L|CPA5_ENST00000485477.1_Silent_p.L398L|CPA5_ENST00000474905.1_Silent_p.L398L|CPA5_ENST00000466363.2_Silent_p.L398L|CPA5_ENST00000393213.3_Silent_p.L398L|CPA5_ENST00000355388.3_Silent_p.L398L	NM_001127442.1	NP_001120914.1	Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	0					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GCTTTGAGCTCCGGGACACTG	0.582000													39	60					4.92203e-23	8.12417e-23	0.025465	1	0
ZFPM2	23414	broad.mit.edu	37	8	106813563	106813563	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:106813563G>T	ENST00000407775.2	+	8	1503	c.1253G>T	c.(1252-1254)aGc>aTc	p.S418I	ZFPM2_ENST00000517361.1_Missense_Mutation_p.S286I|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S149I|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S286I|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	418					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTGACCAGAAGCGAACTTCCC	0.498000													15	106					7.05477e-17	1.10356e-16	0.004990	1	0
PCDHB8	56128	broad.mit.edu	37	5	140559784	140559784	+	Silent	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:140559784G>T	ENST00000239444.2	+	1	2414	c.2169G>T	c.(2167-2169)gtG>gtT	p.V723V		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		723					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCTCGGTGGGTCGCTGCT	0.647000													24	55					5.35356e-11	7.65708e-11	0.016522	1	0
CHL1	10752	broad.mit.edu	37	3	424304	424304	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:424304G>T	ENST00000256509.2	+	18	2768	c.2126G>T	c.(2125-2127)gGg>gTg	p.G709V	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.G693V	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	693					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AACGAAGTAGGGAGAAGTCAG	0.468000													6	44					3.59834e-05	4.22849e-05	0.021553	1	0
ZNF519	162655	broad.mit.edu	37	18	14105633	14105633	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr18:14105633G>C	ENST00000590202.1	-	3	1058	c.906C>G	c.(904-906)aaC>aaG	p.N302K	ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GTGAACTCTTGTTAAAGGCTT	0.398000													18	66					0	0	0.004990	0	0
LMTK2	22853	broad.mit.edu	37	7	97821992	97821992	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:97821992A>C	ENST00000297293.5	+	11	2508	c.2215A>C	c.(2215-2217)Aaa>Caa	p.K739Q		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	739					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K739E(2)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ATTGTCCAGCAAAGAACACAT	0.323000													8	54					0	0	0.003080	0	0
MIR7162	102466227	broad.mit.edu	37	15	62539478	62539478	+	RNA	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr15:62539478G>T	ENST00000570077.1	-	0	278																											ACCTATCTACGGTGGGGGCTG	0.572000													4	12					2.56e-06	3.17458e-06	0.009096	1	0
PLB1	151056	broad.mit.edu	37	2	28828816	28828816	+	Splice_Site	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:28828816G>T	ENST00000422425.2	+	41	3068		c.e41+1		PLB1_ENST00000327757.5_Splice_Site|PLB1_ENST00000541605.1_Intron	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1						lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GACCAATATGGTAAAATAAGT	0.537000													55	54					9.22156e-22	1.51512e-21	0.014410	1	0
RFX4	5992	broad.mit.edu	37	12	107114577	107114577	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:107114577A>T	ENST00000392842.1	+	13	1688	c.1274A>T	c.(1273-1275)cAg>cTg	p.Q425L	RFX4_ENST00000357881.4_Missense_Mutation_p.Q434L|RP11-482D24.3_ENST00000552415.1_RNA|RFX4_ENST00000229387.5_Missense_Mutation_p.Q331L|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	425	Necessary for dimerization.				transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						AAAGTGGCCCAGCAGTTCCTC	0.532000													11	34					0	0	0.010729	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870769	51870769	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr20:51870769C>A	ENST00000371497.5	+	2	1659	c.772C>A	c.(772-774)Ccc>Acc	p.P258T	TSHZ2_ENST00000329613.6_Missense_Mutation_p.P255T|TSHZ2_ENST00000603338.2_Missense_Mutation_p.P255T	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	258					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTATTCAAAGCCCAGGAAAAG	0.468000													35	63					5.8336e-16	9.027e-16	0.015359	1	0
TPH2	121278	broad.mit.edu	37	12	72372742	72372742	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:72372742C>T	ENST00000333850.3	+	7	957	c.816C>T	c.(814-816)ggC>ggT	p.G272G		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	272					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AAAGGTCTGGCTTCACGGTGA	0.502000													10	130					0	0	0.006214	0	0
STAP1	26228	broad.mit.edu	37	4	68447163	68447163	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:68447163T>A	ENST00000265404.2	+	5	586	c.504T>A	c.(502-504)taT>taA	p.Y168*	STAP1_ENST00000396225.1_Nonsense_Mutation_p.Y168*	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	168					cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						CTGAAGATTATGTGGATGTAC	0.378000													53	125					0	0	0.014410	0	0
CTNND2	1501	broad.mit.edu	37	5	11018133	11018133	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:11018133G>T	ENST00000304623.8	-	18	3226	c.3037C>A	c.(3037-3039)Ctc>Atc	p.L1013I	CTNND2_ENST00000359640.2_Missense_Mutation_p.L955I|CTNND2_ENST00000458100.2_Missense_Mutation_p.L580I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.L676I|CTNND2_ENST00000511377.1_Missense_Mutation_p.L922I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1013					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ATGCTGTTGAGGACCTGAGAT	0.502000													6	88					8.12818e-05	9.35262e-05	0.001984	1	0
GPR158	57512	broad.mit.edu	37	10	25887482	25887482	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr10:25887482T>A	ENST00000376351.3	+	11	3286	c.2927T>A	c.(2926-2928)aTg>aAg	p.M976K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	976						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TCTGGGATTATGAAACAACAA	0.483000													18	144					0	0	0.004990	0	0
VCAM1	7412	broad.mit.edu	37	1	101196963	101196963	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:101196963C>G	ENST00000294728.2	+	6	1515	c.1414C>G	c.(1414-1416)Cct>Gct	p.P472A	VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Missense_Mutation_p.P380A|VCAM1_ENST00000370119.4_Missense_Mutation_p.P410A	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	472	Ig-like C2-type 5.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GACCTTCATCCCTACCATTGA	0.383000													12	77					0	0	0.013537	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92818570	92818570	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:92818570C>A	ENST00000440868.1	-	8	1388	c.1338G>T	c.(1336-1338)tgG>tgT	p.W446C	HEPACAM2_ENST00000453812.2_3'UTR|HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000394468.2_3'UTR|HEPACAM2_ENST00000341723.4_3'UTR			A8MVW5	HECA2_HUMAN	HEPACAM family member 2	0						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						ACTGTTTAGCCCATGAAAGTT	0.313000													18	80					5.26018e-13	7.77121e-13	0.012319	1	0
EPHA7	2045	broad.mit.edu	37	6	93965714	93965714	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:93965714C>A	ENST00000369303.4	-	13	2398	c.2214G>T	c.(2212-2214)atG>atT	p.M738I		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	738	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.M738I(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTCCTCTCAGCATTCCTACTA	0.398000													19	39					1.10513e-12	1.62267e-12	0.014323	1	0
TGFBRAP1	9392	broad.mit.edu	37	2	105885840	105885840	+	Silent	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:105885840G>A	ENST00000393359.2	-	11	2721	c.2295C>T	c.(2293-2295)ctC>ctT	p.L765L	TGFBRAP1_ENST00000258449.1_Silent_p.L765L			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	765					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						ATGGGCAGAGGAGCTGCACTG	0.617000													13	34					0	0	0.013537	0	0
NAA25	80018	broad.mit.edu	37	12	112481006	112481006	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:112481006G>A	ENST00000261745.4	-	19	2508	c.2260C>T	c.(2260-2262)Ctt>Ttt	p.L754F		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	754						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ACAGGACCAAGGAAAGGATAC	0.348000													13	53					0	0	0.013537	0	0
NPAP1	23742	broad.mit.edu	37	15	24922540	24922540	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr15:24922540C>A	ENST00000329468.2	+	1	2000	c.1526C>A	c.(1525-1527)cCt>cAt	p.P509H		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCCTTCAAGCCTCCCGTCACA	0.537000													63	257					6.26901e-30	1.05909e-29	0.014410	1	0
GOLGA6C	653641	broad.mit.edu	37	15	75562468	75562468	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr15:75562468G>C	ENST00000300576.5	+	18	2010	c.2010G>C	c.(2008-2010)agG>agC	p.R670S		NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	670										ovary(1)	1						GAGCGGCCAGGGAGGGTTCTC	0.612000													6	101					0	0	0.006214	0	0
TTC24	164118	broad.mit.edu	37	1	156555590	156555590	+	Silent	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:156555590G>T	ENST00000368236.3	+	9	1578	c.1542G>T	c.(1540-1542)ggG>ggT	p.G514G	TTC24_ENST00000495690.1_3'UTR|TTC24_ENST00000368237.3_Silent_p.G514G	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	514							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTGCAGAGGGACAGTCCTCG	0.517000													13	78					1.5842e-08	2.12609e-08	0.016723	1	0
NFKBID	84807	broad.mit.edu	37	19	36387021	36387021	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr19:36387021G>T	ENST00000396901.1	-	9	1040	c.467C>A	c.(466-468)cCg>cAg	p.P156Q	NFKBID_ENST00000352614.2_Missense_Mutation_p.P308Q|NFKBID_ENST00000606253.1_Missense_Mutation_p.P156Q	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	156					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						CGTGTGGAGCGGGGTGAGGCC	0.647000													10	156					2.35188e-11	3.38407e-11	0.006122	1	0
ZFHX4	79776	broad.mit.edu	37	8	77765642	77765642	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:77765642T>A	ENST00000521891.2	+	10	6933	c.6485T>A	c.(6484-6486)aTg>aAg	p.M2162K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.M2136K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.M2117K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.M2117K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2117						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATCCAGGAAATGGCAGAGAAA	0.378000										HNSCC(33;0.089)			35	90					0	0	0.013726	0	0
SH3D19	152503	broad.mit.edu	37	4	152049490	152049490	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:152049490C>T	ENST00000409598.4	-	18	3088	c.1921G>A	c.(1921-1923)Gaa>Aaa	p.E641K	SH3D19_ENST00000427414.2_Missense_Mutation_p.E605K|SH3D19_ENST00000409252.2_Missense_Mutation_p.E664K|SH3D19_ENST00000424281.1_Missense_Mutation_p.E605K|SH3D19_ENST00000514152.1_Missense_Mutation_p.E641K|SH3D19_ENST00000304527.4_Missense_Mutation_p.E664K|SH3D19_ENST00000455740.1_Missense_Mutation_p.E641K			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	664					cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TCACACCATTCTGCCGGAAGA	0.413000													6	39					0	0	0.021553	0	0
PRAME	23532	broad.mit.edu	37	22	22890528	22890528	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr22:22890528G>C	ENST00000543184.1	-	5	2353	c.1491C>G	c.(1489-1491)gaC>gaG	p.D497E	PRAME_ENST00000539862.1_Missense_Mutation_p.D481E|PRAME_ENST00000398741.1_Missense_Mutation_p.D497E|PRAME_ENST00000398743.2_Missense_Mutation_p.D497E|PRAME_ENST00000424204.2_Missense_Mutation_p.D481E|PRAME_ENST00000405655.3_Missense_Mutation_p.D497E|PRAME_ENST00000402697.1_Missense_Mutation_p.D497E	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	497	Mediates interaction with RARA.				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TGGGCTCCGGGTCATAGAAGG	0.547000													40	79					0	0	0.025465	0	0
SUN2	25777	broad.mit.edu	37	22	39134735	39134735	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr22:39134735A>T	ENST00000405510.1	-	17	2162	c.1804T>A	c.(1804-1806)Tgg>Agg	p.W602R	SUN2_ENST00000405018.1_Missense_Mutation_p.W623R|RP3-508I15.18_ENST00000420118.1_RNA|RP3-508I15.19_ENST00000418803.1_RNA|SUN2_ENST00000411587.2_Missense_Mutation_p.W591R|SUN2_ENST00000406622.1_Missense_Mutation_p.W602R|SUN2_ENST00000216064.4_Missense_Mutation_p.W602R	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	602	SUN.				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						TGGAAGGCCCAGCAGTTGCCT	0.637000													6	16					0	0	0.001984	0	0
ARNT2	9915	broad.mit.edu	37	15	80750269	80750269	+	Splice_Site	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr15:80750269G>C	ENST00000533983.1	+	4	452		c.e4-1		ARNT2_ENST00000303329.4_Splice_Site|ARNT2_ENST00000527771.1_Splice_Site			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2						central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TGACTTTTCAGAATGGACTTC	0.383000													7	35					0	0	0.004482	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1709950	1709950	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr16:1709950A>T	ENST00000397412.3	+	11	2398	c.2299A>T	c.(2299-2301)Acg>Tcg	p.T767S	CRAMP1L_ENST00000436138.3_Missense_Mutation_p.T764S|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.T145S|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.T767S|LA16c-431H6.6_ENST00000454337.1_3'UTR			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	767						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GCAGTCGATGACGCCCCCAGG	0.627000													3	19					0	0	0.004672	0	0
LTBP1	4052	broad.mit.edu	37	2	33359884	33359884	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:33359884A>T	ENST00000404816.2	+	5	1411	c.1058A>T	c.(1057-1059)aAg>aTg	p.K353M	LTBP1_ENST00000354476.3_Missense_Mutation_p.K353M|LTBP1_ENST00000402934.1_Missense_Mutation_p.K27M|LTBP1_ENST00000407925.1_Missense_Mutation_p.K27M|LTBP1_ENST00000390003.4_Missense_Mutation_p.K27M|LTBP1_ENST00000404525.1_Missense_Mutation_p.K27M|LTBP1_ENST00000418533.2_Missense_Mutation_p.K27M			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	353					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGCCGCATCAAGGTGGTCTTT	0.488000													42	53					0	0	0.010771	0	0
CSMD3	114788	broad.mit.edu	37	8	113266537	113266537	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:113266537C>G	ENST00000297405.5	-	63	10299	c.10055G>C	c.(10054-10056)tGt>tCt	p.C3352S	CSMD3_ENST00000352409.3_Missense_Mutation_p.C3282S|CSMD3_ENST00000343508.3_Missense_Mutation_p.C3312S|CSMD3_ENST00000455883.2_Missense_Mutation_p.C3183S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3352	Sushi 27.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGGTTTTCACAAGAGGTTTG	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			40	129					0	0	0.011902	0	0
TTN	7273	broad.mit.edu	37	2	179470391	179470391	+	Silent	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:179470391G>A	ENST00000589042.1	-	279	53855	c.53631C>T	c.(53629-53631)tcC>tcT	p.S17877S	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.S16236S|TTN_ENST00000460472.2_Silent_p.S8812S|TTN_ENST00000342175.6_Silent_p.S9004S|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.S8937S|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.S15309S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16236	Fibronectin type-III 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGTGATAGTGGACTTTGTCC	0.433000													15	81					0	0	0.024245	0	0
KIF5C	3800	broad.mit.edu	37	2	149829990	149829990	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:149829990G>C	ENST00000435030.1	+	12	1626	c.1258G>C	c.(1258-1260)Gag>Cag	p.E420Q	KIF5C_ENST00000414838.2_Missense_Mutation_p.E325Q|KIF5C_ENST00000397413.1_Missense_Mutation_p.E188Q|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	420					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GTACGATGAGGAGATCTCCAG	0.473000													26	35					0	0	0.021523	0	0
OR2M5	127059	broad.mit.edu	37	1	248308812	248308812	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:248308812C>A	ENST00000366476.1	+	1	363	c.363C>A	c.(361-363)gaC>gaA	p.D121E		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGTCTTATGACCGCTATATTG	0.453000													50	290					6.31075e-24	1.04645e-23	0.014410	1	0
ZNF260	339324	broad.mit.edu	37	19	37005659	37005659	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr19:37005659T>C	ENST00000523638.1	-	3	1603	c.482A>G	c.(481-483)gAa>gGa	p.E161G	ZNF260_ENST00000588993.1_Missense_Mutation_p.E161G|ZNF260_ENST00000593142.1_Missense_Mutation_p.E161G|ZNF260_ENST00000592282.1_Missense_Mutation_p.E161G	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	161					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					AAATGGTTTTTCTCCAGTATG	0.388000													4	167					0	0	0.009096	0	0
LPHN3	23284	broad.mit.edu	37	4	62935915	62935915	+	Silent	SNP	C	C	T	rs149701600	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:62935915C>T	ENST00000514591.1	+	25	4028	c.3699C>T	c.(3697-3699)agC>agT	p.S1233S	LPHN3_ENST00000512091.1_3'UTR|LPHN3_ENST00000507164.1_3'UTR|LPHN3_ENST00000514157.1_3'UTR|LPHN3_ENST00000506746.1_Silent_p.S1335S|LPHN3_ENST00000508946.1_Silent_p.S1276S|LPHN3_ENST00000506720.1_Silent_p.S1344S|LPHN3_ENST00000504896.1_3'UTR|LPHN3_ENST00000507625.1_Silent_p.S1292S|LPHN3_ENST00000509896.1_3'UTR|LPHN3_ENST00000508693.1_3'UTR|LPHN3_ENST00000514996.1_Silent_p.S1267S|LPHN3_ENST00000545650.1_Silent_p.S1233S|LPHN3_ENST00000506700.1_3'UTR|LPHN3_ENST00000511324.1_3'UTR			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1211					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GCATTGCCAGCGGCGAATACC	0.453000													7	59					0	0	0.001984	0	0
KRT72	140807	broad.mit.edu	37	12	52992774	52992774	+	Silent	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:52992774C>A	ENST00000293745.2	-	2	634	c.549G>T	c.(547-549)ctG>ctT	p.L183L	KRT72_ENST00000398066.3_5'UTR|KRT72_ENST00000354310.4_Silent_p.L183L|KRT72_ENST00000537672.2_Silent_p.L183L	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	183	Coil 1B.|Rod.					keratin filament	structural molecule activity	p.L183L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GCTGCTTCTGCAGGTTGCTGA	0.537000													9	164					0.00621372	0.00661936	0.006214	1	0
PDS5B	23047	broad.mit.edu	37	13	33347329	33347329	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr13:33347329G>T	ENST00000315596.10	+	34	4361	c.4175G>T	c.(4174-4176)cGt>cTt	p.R1392L		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1392					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TACTCTAGCCGTGTAGGACGC	0.393000													34	32					1.26612e-14	1.91384e-14	0.015359	1	0
ZNF385D	79750	broad.mit.edu	37	3	21552355	21552355	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:21552355G>T	ENST00000281523.2	-	4	955	c.437C>A	c.(436-438)aCa>aAa	p.T146K	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	146	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TGCTTAACCTGTTTTGTCAGA	0.458000													16	78					3.52763e-06	4.35196e-06	0.004990	1	0
TMPRSS4	56649	broad.mit.edu	37	11	117984017	117984017	+	Silent	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:117984017G>T	ENST00000534111.1	+	9	1036	c.771G>T	c.(769-771)cgG>cgT	p.R257R	TMPRSS4_ENST00000522307.1_Silent_p.R112R|TMPRSS4_ENST00000437212.3_Silent_p.R259R|TMPRSS4_ENST00000522824.1_Silent_p.R254R|TMPRSS4_ENST00000518413.2_3'UTR|TMPRSS4_ENST00000523251.1_Silent_p.R219R	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022.1|NP_063947.1	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	259	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		GGAAGGTGCGGGCAGGCTCAG	0.547000													15	72					3.27435e-08	4.34563e-08	0.020292	1	0
PLCL1	5334	broad.mit.edu	37	2	198949933	198949933	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:198949933G>T	ENST00000428675.1	+	2	2090	c.1692G>T	c.(1690-1692)atG>atT	p.M564I	PLCL1_ENST00000437704.2_Missense_Mutation_p.M466I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	564	Interaction with GABA A beta subunit (By similarity).				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AAGCTGAAATGTCTCGAAGGA	0.378000													28	89					5.77227e-19	9.29258e-19	0.008361	1	0
ZNF195	7748	broad.mit.edu	37	11	3381315	3381315	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:3381315A>T	ENST00000354599.6	-	4	811	c.707T>A	c.(706-708)gTc>gAc	p.V236D	ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000399602.4_Missense_Mutation_p.V308D|ZNF195_ENST00000005082.9_Missense_Mutation_p.V285D|ZNF195_ENST00000429541.2_Missense_Mutation_p.V240D|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Missense_Mutation_p.V240D|ZNF195_ENST00000526601.1_Missense_Mutation_p.V289D	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	308	Spacer.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGTTTTAATGACGTTGTTACA	0.398000													57	106					0	0	0.014410	0	0
TSEN2	80746	broad.mit.edu	37	3	12571270	12571270	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:12571270C>T	ENST00000444864.1	+	9	1455	c.1068C>T	c.(1066-1068)gtC>gtT	p.V356V	C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000454502.2_Silent_p.V323V|TSEN2_ENST00000415684.1_Silent_p.V356V|TSEN2_ENST00000284995.6_Silent_p.V382V|TSEN2_ENST00000402228.3_Silent_p.V382V|TSEN2_ENST00000383797.5_Silent_p.V365V|TSEN2_ENST00000314571.7_Silent_p.V356V	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	382					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GTTATTCTGTCATTATCGAGC	0.373000													8	29					0	0	0.004482	0	0
GPS2	2874	broad.mit.edu	37	17	7216393	7216393	+	Silent	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:7216393G>A	ENST00000380728.2	-	10	1155	c.855C>T	c.(853-855)ctC>ctT	p.L285L	GPS2_ENST00000391950.3_Silent_p.L285L|GPS2_ENST00000389167.5_Silent_p.L285L|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	285					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GGGAAGCAAGGAGTCCAGGGG	0.557000													32	35					0	0	0.010818	0	0
EPX	8288	broad.mit.edu	37	17	56280470	56280470	+	Silent	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:56280470G>A	ENST00000225371.5	+	11	1847	c.1737G>A	c.(1735-1737)ggG>ggA	p.G579G		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	579					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						GCTTCTGTGGGCTCTCCCAGC	0.527000													4	48					0	0	0.006214	0	0
TLL2	7093	broad.mit.edu	37	10	98170137	98170137	+	Silent	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr10:98170137G>T	ENST00000357947.3	-	9	1368	c.1143C>A	c.(1141-1143)atC>atA	p.I381I	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	381	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GGGTGACCGAGATCCTCCAGA	0.557000													20	28					4.63292e-17	7.26297e-17	0.008871	1	0
CHD8	57680	broad.mit.edu	37	14	21868194	21868194	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:21868194C>T	ENST00000399982.2	-	24	4827	c.4763G>A	c.(4762-4764)aGg>aAg	p.R1588K	CHD8_ENST00000557364.1_Missense_Mutation_p.R1588K|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.R1309K	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1588					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AACCTCCTGCCTCAGGTAGTA	0.443000													47	309					0	0	0.014410	0	0
AKAP13	11214	broad.mit.edu	37	15	86228000	86228000	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr15:86228000C>T	ENST00000394518.2	+	16	5280	c.5185C>T	c.(5185-5187)Cca>Tca	p.P1729S	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.P1733S|AKAP13_ENST00000394510.2_5'UTR	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1729					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TAATTTCCTGCCACATAGCCC	0.333000													16	39					0	0	0.024245	0	0
DNAJC2	27000	broad.mit.edu	37	7	102957423	102957423	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:102957423C>T	ENST00000379263.3	-	13	1531	c.1281G>A	c.(1279-1281)gaG>gaA	p.E427E	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Silent_p.E374E	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	427					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						CCTCAGCTTCCTCTTTCTCTT	0.373000													9	77					0	0	0.008291	0	0
FLG	2312	broad.mit.edu	37	1	152280535	152280535	+	Missense_Mutation	SNP	C	C	G	rs149807349		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:152280535C>G	ENST00000368799.1	-	3	6862	c.6827G>C	c.(6826-6828)aGa>aCa	p.R2276T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2276	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCCATCTCTTGACTGCTC	0.552000									Ichthyosis				5	198					0	0	0.014758	0	0
COL6A6	131873	broad.mit.edu	37	3	130285743	130285743	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:130285743T>A	ENST00000358511.6	+	4	1511	c.1480T>A	c.(1480-1482)Tcc>Acc	p.S494T	COL6A6_ENST00000453409.2_Missense_Mutation_p.S494T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	494	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAATAAATACTCCAACAAGCA	0.483000													21	83					0	0	0.010504	0	0
RAMP2	10266	broad.mit.edu	37	17	40914378	40914378	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:40914378A>G	ENST00000253796.5	+	3	237	c.169A>G	c.(169-171)Acg>Gcg	p.T57A	RAMP2_ENST00000588576.1_Intron|RAMP2_ENST00000589683.1_5'UTR|RAMP2_ENST00000587142.1_Missense_Mutation_p.T62A	NM_005854.2	NP_005845.2	O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	57					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity	p.T57A(1)		endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	TACAGGGGGGACGGTGAAGAA	0.493000													3	112					0	0	0.004672	0	0
CORIN	10699	broad.mit.edu	37	4	47808936	47808936	+	Silent	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:47808936G>T	ENST00000273857.4	-	2	191	c.192C>A	c.(190-192)atC>atA	p.I64I	CORIN_ENST00000504584.1_Silent_p.I64I|CORIN_ENST00000505909.1_Silent_p.I64I|CORIN_ENST00000502252.1_Silent_p.I64I	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	64					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGGAAAGCAGGATCACCAGCA	0.428000													11	47					1.08611e-07	1.41273e-07	0.010729	1	0
KIF4A	24137	broad.mit.edu	37	X	69521901	69521901	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chrX:69521901G>C	ENST00000374403.3	+	6	750	c.668G>C	c.(667-669)aGa>aCa	p.R223T	KIF4A_ENST00000374388.3_Missense_Mutation_p.R223T	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	223	Kinesin-motor.			R -> G (in Ref. 2; AAD05492).	anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TTAGAGCAAAGAAAGAAAAGT	0.383000													35	67					0	0	0.017118	0	0
HOXC8	3224	broad.mit.edu	37	12	54403118	54403118	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:54403118A>T	ENST00000040584.4	+	1	287	c.50A>T	c.(49-51)gAg>gTg	p.E17V		NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	17						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						AAAGCCGGCGAGTCCCTGGAA	0.652000													34	159					0	0	0.027894	0	0
DZIP3	9666	broad.mit.edu	37	3	108406848	108406848	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:108406848A>G	ENST00000361582.3	+	29	3405	c.3175A>G	c.(3175-3177)Aaa>Gaa	p.K1059E	DZIP3_ENST00000463306.1_Missense_Mutation_p.K1059E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	1059					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TTTCTTACGGAAATTGAAGGA	0.383000													10	33					0	0	0.006214	0	0
PTPRC	5788	broad.mit.edu	37	1	198725066	198725066	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:198725066C>A	ENST00000367376.2	+	33	3842	c.3671C>A	c.(3670-3672)gCc>gAc	p.A1224D	PTPRC_ENST00000442510.2_Missense_Mutation_p.A1226D|PTPRC_ENST00000594404.1_Missense_Mutation_p.A1063D|PTPRC_ENST00000348564.6_Missense_Mutation_p.A1065D|PTPRC_ENST00000352140.3_Missense_Mutation_p.A1176D	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1224	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GACGTCATTGCCAGCACCTAC	0.348000													14	125					6.81908e-15	1.03293e-14	0.020292	1	0
ZNF366	167465	broad.mit.edu	37	5	71757137	71757137	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:71757137C>A	ENST00000318442.5	-	2	677	c.187G>T	c.(187-189)Gac>Tac	p.D63Y		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	63					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CCATCTAGGTCTCCTGGGGGA	0.582000													12	86					1.08611e-07	1.41273e-07	0.010729	1	0
PAQR7	164091	broad.mit.edu	37	1	26189367	26189367	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:26189367T>G	ENST00000374296.3	-	2	1630	c.964A>C	c.(964-966)Acg>Ccg	p.T322P	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	322					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCCACCGTGAGCAGGAAG	0.582000													13	25					0	0	0.020292	0	0
GRM1	2911	broad.mit.edu	37	6	146720721	146720721	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:146720721C>T	ENST00000392299.2	+	8	3016	c.2546C>T	c.(2545-2547)gCc>gTc	p.A849V	GRM1_ENST00000282753.1_Missense_Mutation_p.A849V|GRM1_ENST00000355289.4_Missense_Mutation_p.A849V|GRM1_ENST00000492807.2_Missense_Mutation_p.A849V|GRM1_ENST00000361719.2_Missense_Mutation_p.A849V|GRM1_ENST00000507907.1_Missense_Mutation_p.A849V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	849					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GTCCGCAGTGCCTTCACCACC	0.527000													24	57					0	0	0.016522	0	0
PDCD11	22984	broad.mit.edu	37	10	105187094	105187094	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr10:105187094C>G	ENST00000369797.3	+	21	3408	c.3314C>G	c.(3313-3315)cCa>cGa	p.P1105R		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1105	S1 motif 9.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AGGTATCTCCCAATAAGTCAC	0.483000													4	61					0	0	0.014758	0	0
SEC14L1	6397	broad.mit.edu	37	17	75212642	75212642	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:75212642G>T	ENST00000392476.2	+	20	2715	c.2156G>T	c.(2155-2157)tGc>tTc	p.C719F	SEC14L1_ENST00000436233.4_3'UTR|SEC14L1_ENST00000430767.4_3'UTR|SEC14L1_ENST00000413679.2_3'UTR|SEC14L1_ENST00000443798.4_Missense_Mutation_p.C719F	NM_001204408.1	NP_001191337.1	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	0					transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TGGCGATTTTGCTGACAGCTG	0.512000													12	99					5.50884e-06	6.72678e-06	0.013537	1	0
NIPBL	25836	broad.mit.edu	37	5	37027499	37027499	+	Silent	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:37027499G>A	ENST00000282516.8	+	32	6346	c.5847G>A	c.(5845-5847)gaG>gaA	p.E1949E	NIPBL_ENST00000448238.2_Silent_p.E1949E	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1949					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACTGGTTTGAGCAACTGCTTC	0.313000													9	82					0	0	0.010729	0	0
ALMS1P	200420	broad.mit.edu	37	2	73900974	73900974	+	RNA	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:73900974C>T	ENST00000450720.1	+	0	772					NR_003683.2																						GACTTCATCTCCCACATTGGG	0.428000													11	7					0	0	0.010729	0	0
ABCB5	340273	broad.mit.edu	37	7	20698688	20698688	+	Splice_Site	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:20698688G>T	ENST00000443026.2	+	6	918		c.e6-1		ABCB5_ENST00000404938.2_Intron|ABCB5_ENST00000258738.6_Intron|ABCB5_ENST00000406935.1_Intron	NM_001163942.1	NP_001157414.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5						regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTCTTCTTTAGGATACCCCCA	0.483000													26	205					1.66031e-10	2.36059e-10	0.021523	1	0
PRDM9	56979	broad.mit.edu	37	5	23526560	23526560	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:23526560G>C	ENST00000296682.3	+	11	1545	c.1363G>C	c.(1363-1365)Gag>Cag	p.E455Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	455					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAAAGGTCAAGAGATCAAAGA	0.473000										HNSCC(3;0.000094)			39	46					0	0	0.008740	0	0
ZNF366	167465	broad.mit.edu	37	5	71756118	71756118	+	Silent	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:71756118G>A	ENST00000318442.5	-	2	1696	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TCGGGTACTGGAAGGTCTTGT	0.607000													8	17					0	0	0.003080	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776276	77776276	+	Silent	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:77776276C>A	ENST00000521891.2	+	11	10774	c.10326C>A	c.(10324-10326)gtC>gtA	p.V3442V	ZFHX4_ENST00000518282.1_Silent_p.V3416V|ZFHX4_ENST00000050961.6_Silent_p.V3393V|ZFHX4_ENST00000455469.2_Silent_p.V3397V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3393						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCTTCGTGTCCCAGTCAGCA	0.448000										HNSCC(33;0.089)			23	81					7.88262e-20	1.28338e-19	0.018920	1	0
PRPF6	24148	broad.mit.edu	37	20	62616311	62616311	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr20:62616311G>A	ENST00000535781.1	+	3	403	c.292G>A	c.(292-294)Gat>Aat	p.D98N	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	98					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CGAGAAAGATGATGAGGAAGC	0.413000													7	41					0	0	0.001984	0	0
DCDC1	341019	broad.mit.edu	37	11	30921177	30921177	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:30921177G>C	ENST00000597505.1	-	32	4666	c.4667C>G	c.(4666-4668)gCa>gGa	p.A1556G	DCDC1_ENST00000339794.5_Missense_Mutation_p.S632R|DCDC1_ENST00000406071.2_Missense_Mutation_p.A294G			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TAATTTTTCTGCTTTCTGCAA	0.308000													6	8					0	0	0.021553	0	0
AKAP8	10270	broad.mit.edu	37	19	15484839	15484839	+	Silent	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr19:15484839G>C	ENST00000269701.2	-	4	189	c.129C>G	c.(127-129)acC>acG	p.T43T		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	43					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TGGTGACACTGGTGTTCTGGG	0.622000													13	11					0	0	0.016723	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39380195	39380195	+	Missense_Mutation	SNP	C	C	T	rs143126732	byFrequency	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr22:39380195C>T	ENST00000402182.3	+	2	188	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	APOBEC3B_ENST00000333467.3_Missense_Mutation_p.R45C|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R45C			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	45					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					AAAGAGGGGCCGCTCAAATCT	0.483000													20	64					0	0	0.008361	0	0
FAT4	79633	broad.mit.edu	37	4	126239846	126239846	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:126239846G>T	ENST00000394329.3	+	1	2293	c.2280G>T	c.(2278-2280)caG>caT	p.Q760H		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	760	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGCTTATCAGTTGCAAATAG	0.443000													10	61					3.86212e-05	4.52366e-05	0.008291	1	0
ANKS1B	56899	broad.mit.edu	37	12	99837588	99837588	+	Splice_Site	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:99837588C>A	ENST00000547776.2	-	11	1438		c.e11-1		ANKS1B_ENST00000329257.7_Splice_Site|ANKS1B_ENST00000547010.1_Splice_Site	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B							Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GAGGCATTATCTGTGAATAAA	0.368000													27	73					4.59853e-10	6.43615e-10	0.027356	1	0
RHPN2	85415	broad.mit.edu	37	19	33493811	33493811	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr19:33493811G>A	ENST00000254260.3	-	8	891	c.856C>T	c.(856-858)Caa>Taa	p.Q286*	RHPN2_ENST00000400226.4_Nonsense_Mutation_p.Q135*	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	286	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TCTTGGGCTTGTGCAAGCATC	0.473000													49	25					0	0	0.014410	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	rs28934576	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:7577120C>A	ENST00000420246.2	-	8	950	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000269305.4_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	16					3.07112e-06	3.80183e-06	0.010729	1	0
NLRP3	114548	broad.mit.edu	37	1	247587725	247587725	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:247587725G>C	ENST00000366497.2	+	4	1760	c.980G>C	c.(979-981)cGg>cCg	p.R327P	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.R327P|NLRP3_ENST00000336119.3_Missense_Mutation_p.R327P|NLRP3_ENST00000391828.3_Missense_Mutation_p.R327P|NLRP3_ENST00000366496.2_Missense_Mutation_p.R327P|NLRP3_ENST00000391827.2_Missense_Mutation_p.R327P	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	327	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.R327P(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AAGGCCGAGCGGGGAGACATT	0.587000													19	59					0	0	0.006122	0	0
DDX24	57062	broad.mit.edu	37	14	94517574	94517574	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:94517574T>C	ENST00000330836.5	-	9	2674	c.2543A>G	c.(2542-2544)cAg>cGg	p.Q848R	DDX24_ENST00000555054.1_Missense_Mutation_p.Q805R|DDX24_ENST00000553400.1_5'UTR|DDX24_ENST00000544005.1_Missense_Mutation_p.Q598R	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	848					RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTGTTCCGGCTGTGGCTCCTT	0.502000											OREG0022891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	69					0	0	0.018920	0	0
PRKCG	5582	broad.mit.edu	37	19	54403989	54403989	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr19:54403989T>A	ENST00000263431.3	+	14	1843	c.1561T>A	c.(1561-1563)Tac>Aac	p.Y521N	PRKCG_ENST00000540413.1_Missense_Mutation_p.Y521N|PRKCG_ENST00000542049.1_Missense_Mutation_p.Y408N	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	521	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.Y521N(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GACCCCGGACTACATAGCCCC	0.582000													87	108					0	0	0.014410	0	0
OR5B17	219965	broad.mit.edu	37	11	58126124	58126124	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:58126124G>A	ENST00000357377.3	-	1	418	c.419C>T	c.(418-420)gCt>gTt	p.A140V		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGCCAGACAAGCACACACACG	0.443000													13	83					0	0	0.024245	0	0
ZNF99	7652	broad.mit.edu	37	19	22941185	22941185	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr19:22941185C>A	ENST00000397104.3	-	5	1252	c.1253G>T	c.(1252-1254)tGc>tTc	p.C418F	ZNF99_ENST00000596209.1_Missense_Mutation_p.C509F					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTCACATTTGCAAGGTTTCTC	0.353000													15	51					1.3612e-06	1.70566e-06	0.024245	1	0
CDON	50937	broad.mit.edu	37	11	125851151	125851151	+	Silent	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:125851151T>A	ENST00000392693.3	-	17	3196	c.3069A>T	c.(3067-3069)tcA>tcT	p.S1023S	CDON_ENST00000531738.1_Silent_p.S400S|CDON_ENST00000263577.7_Silent_p.S1023S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1023					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GACTTGCTCCTGAGAGAGTGG	0.468000													17	73					0	0	0.007413	0	0
MT-ND5	4540	broad.mit.edu	37	MT	12947	12947	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chrM:12947T>C	ENST00000361567.2	+	1	611	c.611T>C	c.(610-612)cTa>cCa	p.L204P				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	204					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	AATAGCCCTTCTAAACGCTAA	0.512000													24	762					0	0	0.024334	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146536953	146536953	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:146536953C>T	ENST00000361727.3	+	3	875	c.359C>T	c.(358-360)aCa>aTa	p.T120I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	120	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TACAGCGACACAGGGAGAAAC	0.453000										HNSCC(39;0.1)			7	34					0	0	0.003080	0	0
NPR3	4883	broad.mit.edu	37	5	32712591	32712591	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:32712591G>T	ENST00000265074.8	+	1	1052	c.709G>T	c.(709-711)Gac>Tac	p.D237Y	NPR3_ENST00000415167.2_Missense_Mutation_p.D237Y|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415685.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	237					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CTACAGTTTCGACGAGACCAA	0.602000													17	207					9.7654e-05	0.000112006	0.007413	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43826126	43826126	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:43826126G>T	ENST00000389420.3	-	21	3076	c.3077C>A	c.(3076-3078)gCt>gAt	p.A1026D	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.A180D|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A1026D	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1026	TSP type-1 5.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCACTAGCAGCCCAACTGGG	0.378000													4	31					0.00024832	0.000279896	0.009096	1	0
GPA33	10223	broad.mit.edu	37	1	167032878	167032878	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:167032878G>T	ENST00000367868.3	-	4	855	c.512C>A	c.(511-513)cCt>cAt	p.P171H	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	171	Ig-like C2-type.					integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GCTGTACTGAGGGGTTGGTGA	0.572000													16	79					7.07596e-05	8.18122e-05	0.006122	1	0
AASDH	132949	broad.mit.edu	37	4	57204599	57204599	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:57204599C>A	ENST00000205214.6	-	15	3446	c.3266G>T	c.(3265-3267)tGt>tTt	p.C1089F	AASDH_ENST00000451613.1_3'UTR|AASDH_ENST00000513376.1_Missense_Mutation_p.C989F|AASDH_ENST00000434343.2_Missense_Mutation_p.C604F	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	1089					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	p.C1089Y(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TAAATCCAGACAATAAACATA	0.318000													11	65					2.68362e-12	3.9084e-12	0.013537	1	0
GUCA2B	2981	broad.mit.edu	37	1	42620447	42620447	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:42620447C>G	ENST00000372581.1	+	2	217	c.187C>G	c.(187-189)Ctg>Gtg	p.L63V		NM_007102.2	NP_009033.1	Q16661	GUC2B_HUMAN	guanylate cyclase activator 2B (uroguanylin)	63					excretion	extracellular region	calcium sensitive guanylate cyclase activator activity			breast(1)|large_intestine(2)	3	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCAGAGCCTCCTGCCCGCCGT	0.642000													11	34					0	0	0.010729	0	0
ACR	49	broad.mit.edu	37	22	51182598	51182598	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr22:51182598C>T	ENST00000216139.5	+	4	715	c.675C>T	c.(673-675)tgC>tgT	p.C225C	ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	225	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		CCAATGTGTGCGCGGGGTATC	0.577000													20	27					0	0	0.010504	0	0
DPF3	8110	broad.mit.edu	37	14	73140967	73140967	+	Silent	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:73140967G>A	ENST00000541685.1	-	8	864	c.852C>T	c.(850-852)tgC>tgT	p.C284C	DPF3_ENST00000546183.1_Silent_p.C294C|DPF3_ENST00000556509.1_Silent_p.C284C|DPF3_ENST00000557704.1_5'UTR	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	284					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	p.C284C(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CACAGTCTGCGCAGGACACCA	0.572000													10	21					0	0	0.006214	0	0
HPX	3263	broad.mit.edu	37	11	6458394	6458394	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:6458394C>A	ENST00000265983.3	-	7	817	c.717G>T	c.(715-717)agG>agT	p.R239S		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	239					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CAGTCCCATTCCTGTGTCCAT	0.552000													18	27					0.00074312	0.000820862	0.006122	1	0
CSDE1	7812	broad.mit.edu	37	1	115262199	115262199	+	Splice_Site	SNP	C	C	T	rs112211707		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:115262199C>T	ENST00000438362.2	-	18	2733		c.e18+1		CSDE1_ENST00000261443.5_Splice_Site|CSDE1_ENST00000369530.1_Splice_Site|CSDE1_ENST00000358528.4_Splice_Site|CSDE1_ENST00000534699.1_Splice_Site|CSDE1_ENST00000530886.1_Splice_Site|CSDE1_ENST00000339438.6_Splice_Site	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding						male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAAAACTCACCAGACTCGCC	0.463000													16	95					0	0	0.024245	0	0
CCDC173	129881	broad.mit.edu	37	2	170531214	170531214	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:170531214C>G	ENST00000447353.1	-	4	639	c.534G>C	c.(532-534)aaG>aaC	p.K178N		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173																		CTGATTTTATCTTACTCTTTC	0.333000													3	26					0	0	0.009096	0	0
KALRN	8997	broad.mit.edu	37	3	124044878	124044878	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:124044878G>A	ENST00000360013.3	+	7	1265	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	KALRN_ENST00000240874.3_Missense_Mutation_p.E380K|KALRN_ENST00000460856.1_Missense_Mutation_p.E380K	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	380					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCGCCTCTCTGAGGCCGGTCA	0.542000													7	39					0	0	0.013537	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45696990	45696990	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:45696990G>A	ENST00000310806.4	-	9	2080	c.1622C>T	c.(1621-1623)tCa>tTa	p.S541L		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	541					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						AGCTCCTGGTGACTCACTGTG	0.328000													9	25					0	0	0.010729	0	0
HNRNPH2	3188	broad.mit.edu	37	X	100667366	100667366	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chrX:100667366C>A	ENST00000316594.5	+	2	468	c.390C>A	c.(388-390)ttC>ttA	p.F130L		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	130	RRM 2.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						TTGTTCAGTTCTTTTCAGGGT	0.507000													13	34					1.36491e-13	2.03743e-13	0.016723	1	0
ZNF610	162963	broad.mit.edu	37	19	52869878	52869878	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr19:52869878C>A	ENST00000601151.1	+	5	1570	c.1118C>A	c.(1117-1119)aCc>aAc	p.T373N	ZNF610_ENST00000403906.3_Missense_Mutation_p.T416N|ZNF610_ENST00000321287.8_Missense_Mutation_p.T416N|ZNF610_ENST00000327920.8_Missense_Mutation_p.T416N	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TTATACCTAACCAACCATCAG	0.418000													9	17					2.80697e-09	3.86834e-09	0.010729	1	0
GH2	2689	broad.mit.edu	37	17	61958133	61958133	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:61958133C>A	ENST00000332800.7	-	4	588	c.455G>T	c.(454-456)tGg>tTg	p.W152L	GH2_ENST00000456543.2_Intron|GH2_ENST00000423893.2_Splice_Site_p.W152_splice|GH2_ENST00000449787.2_Splice_Site_p.W137_splice	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	152						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						CACCCTCACCCACATCAGCGT	0.607000													14	42					4.36969e-10	6.15184e-10	0.016723	1	0
HIST1H4H	8365	broad.mit.edu	37	6	26285577	26285577	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:26285577T>A	ENST00000289352.1	-	1	185	c.151A>T	c.(151-153)Atc>Ttc	p.I51F	HIST1H4H_ENST00000377727.1_Missense_Mutation_p.I51F			P62805	H4_HUMAN	histone cluster 1, H4h	51					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						TCCTCATAGATAAGGCCAGAA	0.552000										HNSCC(76;0.23)			46	37					0	0	0.010771	0	0
METTL23	124512	broad.mit.edu	37	17	74729619	74729619	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:74729619G>T	ENST00000341249.6	+	5	756	c.424G>T	c.(424-426)Gaa>Taa	p.E142*	METTL23_ENST00000588302.1_3'UTR|METTL23_ENST00000590964.1_Nonsense_Mutation_p.E75*|METTL23_ENST00000588822.1_Nonsense_Mutation_p.E75*|METTL23_ENST00000588783.1_3'UTR|METTL23_ENST00000591571.1_3'UTR|METTL23_ENST00000586752.1_Nonsense_Mutation_p.E75*|METTL23_ENST00000586738.1_3'UTR|METTL23_ENST00000586200.1_Nonsense_Mutation_p.E23*|RP11-318A15.7_ENST00000587459.1_Intron	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN	methyltransferase like 23	142						integral to membrane	methyltransferase activity			large_intestine(2)|lung(1)	3						CTGGTCACTTGAAGCTTTACT	0.348000													12	83					2.32078e-09	3.21064e-09	0.024245	1	0
WDR7	23335	broad.mit.edu	37	18	54694328	54694328	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr18:54694328G>T	ENST00000254442.3	+	28	4574	c.4363G>T	c.(4363-4365)Gcg>Tcg	p.A1455S	WDR7_ENST00000589935.1_Missense_Mutation_p.A32S|WDR7_ENST00000357574.3_Missense_Mutation_p.A1422S	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1455										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGTGCAGCCCGCGTCCCCCGG	0.622000													12	35					0.000219431	0.000250082	0.020292	1	0
XKR4	114786	broad.mit.edu	37	8	56015490	56015490	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:56015490A>T	ENST00000327381.5	+	1	542	c.442A>T	c.(442-444)Acg>Tcg	p.T148S		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	148						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GTTCGGGCTCACGCTCTTCTT	0.657000													7	16					0	0	0.003080	0	0
MT-ND4	4538	broad.mit.edu	37	MT	10914	10914	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chrM:10914G>A	ENST00000361381.2	+	1	155	c.155G>A	c.(154-156)tGt>tAt	p.52_52insY						mitochondrially encoded NADH dehydrogenase 4											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						CCTATTTAGCTGTTCCCCAAC	0.438000													19	663					0	0	0.007413	0	0
SLC2A3	6515	broad.mit.edu	37	12	8085593	8085593	+	Missense_Mutation	SNP	G	G	T	rs146026720		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:8085593G>T	ENST00000075120.7	-	3	499	c.259C>A	c.(259-261)Cgc>Agc	p.R87S		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	87					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	p.R87C(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CTGCCAAAGCGGTTGACGAAG	0.547000											OREG0021656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	30					0.000442599	0.000493457	0.006214	1	0
PCDH11X	27328	broad.mit.edu	37	X	91873877	91873877	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chrX:91873877C>A	ENST00000373094.1	+	7	4827	c.3982C>A	c.(3982-3984)Cca>Aca	p.P1328T	PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1320T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1291T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1318T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1291T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1310T|PCDH11X_ENST00000504220.1_3'UTR	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1328					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AACCTTCACTCCACGCCAACA	0.418000													46	41					4.64027e-19	7.48699e-19	0.014410	1	0
PCDH10	57575	broad.mit.edu	37	4	134084246	134084246	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:134084246G>T	ENST00000264360.4	+	4	3738	c.2912G>T	c.(2911-2913)aGc>aTc	p.S971I		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	971					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GATTATCGCAGCAATCTGCAT	0.537000													9	90					0.000274275	0.000307702	0.004482	1	0
USH2A	7399	broad.mit.edu	37	1	215972282	215972282	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:215972282C>T	ENST00000366943.2	-	50	10311	c.9925G>A	c.(9925-9927)Gga>Aga	p.G3309R	USH2A_ENST00000307340.3_Missense_Mutation_p.G3309R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3309					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTTCTTCTCCACCACAACAC	0.507000										HNSCC(13;0.011)			14	103					0	0	0.006122	0	0
GOLGA5	9950	broad.mit.edu	37	14	93299472	93299472	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:93299472C>T	ENST00000163416.2	+	10	1981	c.1725C>T	c.(1723-1725)acC>acT	p.T575T	GOLGA5_ENST00000355976.2_Silent_p.T575T	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN	golgin A5	575					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TTCAGCTTACCAATAAAACTT	0.358000			T	RET	papillary thyroid								14	139					0	0	0.016723	0	0
CSMD3	114788	broad.mit.edu	37	8	113392686	113392686	+	Splice_Site	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:113392686C>A	ENST00000297405.5	-	38	6276		c.e38-1		CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTGTTGTTCCTGAAATGATA	0.299000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	77					7.03913e-09	9.51807e-09	0.013537	1	0
DMD	1756	broad.mit.edu	37	X	32632478	32632478	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chrX:32632478T>A	ENST00000357033.4	-	12	1630	c.1424A>T	c.(1423-1425)gAg>gTg	p.E475V	DMD_ENST00000378677.2_Missense_Mutation_p.E471V|DMD_ENST00000288447.4_Missense_Mutation_p.E467V	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	475					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGGCTCTTCCTCCATTTTCCT	0.373000													10	14					0	0	0.006214	0	0
PCLO	27445	broad.mit.edu	37	7	82545566	82545566	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:82545566T>G	ENST00000423517.2	-	7	12073	c.11736A>C	c.(11734-11736)caA>caC	p.Q3912H	PCLO_ENST00000437081.1_Missense_Mutation_p.Q632H|PCLO_ENST00000333891.8_Missense_Mutation_p.Q3912H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3843					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTACAAAGTTTGTTGCTCAA	0.468000													74	479					0	0	0.014410	0	0
CDH7	1005	broad.mit.edu	37	18	63477063	63477063	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr18:63477063C>A	ENST00000536984.2	+	3	1028	c.334C>A	c.(334-336)Cgt>Agt	p.R112S	CDH7_ENST00000323011.3_Missense_Mutation_p.R112S|CDH7_ENST00000397968.2_Missense_Mutation_p.R112S			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	112	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GAGACTGGATCGTGAGGAGCA	0.498000													11	67					1.08611e-07	1.41273e-07	0.010729	1	0
EIF2AK3	9451	broad.mit.edu	37	2	88889990	88889990	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:88889990C>A	ENST00000303236.3	-	6	1437	c.1136G>T	c.(1135-1137)aGa>aTa	p.R379I	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.R228I	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	379					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TGTGGCTCCTCTGGCAGCTTC	0.358000													8	57					0.000978159	0.00107883	0.010729	1	0
MT-ND1	4535	broad.mit.edu	37	MT	3880	3880	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chrM:3880G>A	ENST00000361390.2	+	1	574	c.574G>A	c.(574-576)Gag>Aag	p.192_192insK						mitochondrially encoded NADH dehydrogenase 1											breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						CCACACTAGCAGAGACCAACC	0.512000													11	949					0	0	0.006214	0	0
ORC3	23595	broad.mit.edu	37	6	88375549	88375549	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:88375549C>T	ENST00000392844.3	+	19	2076	c.2028C>T	c.(2026-2028)atC>atT	p.I676I	ORC3_ENST00000546266.1_Silent_p.I533I|ORC3_ENST00000257789.4_Silent_p.I677I	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	676					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						ATGAAATTATCCAGTATCCTT	0.333000													7	10					0	0	0.008291	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136113	40136113	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:40136113C>A	ENST00000278198.2	-	2	3693	c.1730G>T	c.(1729-1731)gGa>gTa	p.G577V	LRRC4C_ENST00000528697.1_Missense_Mutation_p.G577V|LRRC4C_ENST00000530763.1_Missense_Mutation_p.G577V|LRRC4C_ENST00000527150.1_Missense_Mutation_p.G577V			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	577					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGGTGTGTCTCCCGTAATCTC	0.458000													13	68					0.00136819	0.00148843	0.013537	1	0
TNNI3K	51086	broad.mit.edu	37	1	74901798	74901798	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:74901798G>T	ENST00000370891.2	+	20	2126	c.2110G>T	c.(2110-2112)Gtg>Ttg	p.V704L	FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.V704L|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.V704L|TNNI3K_ENST00000326637.3_Missense_Mutation_p.V603L	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TGGGCATGCTGTGGTGGCAGA	0.373000													9	63					3.09899e-07	3.99474e-07	0.004482	1	0
CXorf61	203413	broad.mit.edu	37	X	115593079	115593079	+	Silent	SNP	A	A	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chrX:115593079A>G	ENST00000371894.4	-	2	317	c.171T>C	c.(169-171)ctT>ctC	p.L57L		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	57						integral to membrane|plasma membrane				breast(1)|large_intestine(3)|lung(8)	12						CGTAGACTGCAAGATTGTTGT	0.413000													23	41					0	0	0.014323	0	0
TENM3	55714	broad.mit.edu	37	4	183245189	183245189	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:183245189C>A	ENST00000511685.1	+	2	139	c.16C>A	c.(16-18)Cgc>Agc	p.R6S	TENM3_ENST00000406950.2_Missense_Mutation_p.R6S					teneurin transmembrane protein 3																		TGTGAAAGAACGCAGGCCTTA	0.517000													5	46					1.23904e-05	1.49769e-05	0.014758	1	0
IRF6	3664	broad.mit.edu	37	1	209968741	209968741	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:209968741C>A	ENST00000367021.3	-	5	574	c.402G>T	c.(400-402)tgG>tgT	p.W134C	IRF6_ENST00000542854.1_Missense_Mutation_p.W39C	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	134					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CCTTCTCATCCCAGGGAGCAG	0.537000										HNSCC(57;0.16)			31	84					1.30897e-18	2.09319e-18	0.009535	1	0
HIVEP2	3097	broad.mit.edu	37	6	143095280	143095280	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:143095280G>A	ENST00000367603.2	-	5	1338	c.596C>T	c.(595-597)gCc>gTc	p.A199V	HIVEP2_ENST00000367604.1_Missense_Mutation_p.A199V|HIVEP2_ENST00000012134.2_Missense_Mutation_p.A199V	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ACTAGGTTTGGCACACGCTCT	0.458000													9	34					0	0	0.004482	0	0
CSF2RB	1439	broad.mit.edu	37	22	37325814	37325814	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr22:37325814A>T	ENST00000262825.5	+	6	900	c.683A>T	c.(682-684)aAg>aTg	p.K228M	CSF2RB_ENST00000406230.1_Missense_Mutation_p.K228M|CSF2RB_ENST00000403662.3_Missense_Mutation_p.K228M|CSF2RB_ENST00000536485.1_Missense_Mutation_p.K169M	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	228	Fibronectin type-III 1.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CGTCCCAGCAAGTGGAGCCCA	0.667000													6	12					0	0	0.021553	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148699197	148699197	+	Missense_Mutation	SNP	T	T	A	rs140803806		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:148699197T>A	ENST00000296721.4	+	13	1630	c.1532T>A	c.(1531-1533)aTg>aAg	p.M511K	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.M511K	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	511	PH 2.						protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGAGATGGGCTCCAGA	0.572000													5	12					0	0	0.014758	0	0
FAT3	120114	broad.mit.edu	37	11	92257911	92257911	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:92257911A>G	ENST00000298047.6	+	2	3421	c.3404A>G	c.(3403-3405)tAc>tGc	p.Y1135C	FAT3_ENST00000541502.1_Missense_Mutation_p.Y1135C|FAT3_ENST00000525166.1_Missense_Mutation_p.Y985C|FAT3_ENST00000409404.2_Missense_Mutation_p.Y1135C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1135	Cadherin 10.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTGAGGTCTACATTGAAGTT	0.468000										TCGA Ovarian(4;0.039)			13	36					0	0	0.016723	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253685	32253685	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr21:32253685C>T	ENST00000332378.4	-	1	189	c.159G>A	c.(157-159)ctG>ctA	p.L53L		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	53						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						GACAGTGGTCCAGGAGCCAAG	0.572000													15	81					0	0	0.024245	0	0
MT-CYB	4519	broad.mit.edu	37	MT	14985	14985	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chrM:14985G>A	ENST00000361789.2	+	1	239	c.239G>A	c.(238-240)cGc>cAc	p.80_80insH						mitochondrially encoded cytochrome b											breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						CTGAATCATCCGCTACCTTCA	0.483000													104	876					0	0	0.014410	0	0
CWH43	80157	broad.mit.edu	37	4	49019322	49019322	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:49019322T>C	ENST00000226432.4	+	9	1426	c.1243T>C	c.(1243-1245)Tat>Cat	p.Y415H	CWH43_ENST00000513409.1_Missense_Mutation_p.Y388H	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	415					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCATAAAGCCTATGAGAGAAA	0.308000													21	57					0	0	0.016522	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													3	61					0	0	0.004672	0	0
ATP9A	10079	broad.mit.edu	37	20	50224125	50224125	+	Splice_Site	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr20:50224125T>A	ENST00000338821.5	-	26	3010		c.e26-2		ATP9A_ENST00000311637.5_Splice_Site|ATP9A_ENST00000402822.1_Splice_Site	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A						ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CGGCCGTCCCTGAATGAGAGA	0.493000													5	11					0	0	0.001984	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720008	140720008	+	Silent	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:140720008T>A	ENST00000394576.2	+	1	1470	c.1470T>A	c.(1468-1470)tcT>tcA	p.S490S	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACTTACTCTTTCGCGGAGG	0.517000													17	69					0	0	0.004990	0	0
MT-ND5	4540	broad.mit.edu	37	MT	13414	13414	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chrM:13414G>A	ENST00000361567.2	+	1	1078	c.1078G>A	c.(1078-1080)Gga>Aga	p.G360R				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	360					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	TTCGAAAAATAGGAGGACTAC	0.448000													7	630					0	0	0.003080	0	0
PKD2	5311	broad.mit.edu	37	4	88940614	88940614	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:88940614C>T	ENST00000237596.2	+	2	666	c.600C>T	c.(598-600)ctC>ctT	p.L200L		NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	200						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TTAAAGGTCTCTGGGGAACAA	0.333000													15	27					0	0	0.020292	0	0
C9	735	broad.mit.edu	37	5	39331799	39331799	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:39331799G>T	ENST00000263408.4	-	5	689	c.594C>A	c.(592-594)aaC>aaA	p.N198K	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	198	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AAGAAGCCACGTTCCAAGGTC	0.413000													20	224					8.10497e-08	1.06582e-07	0.010504	1	0
CHL1	10752	broad.mit.edu	37	3	424303	424303	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:424303G>T	ENST00000256509.2	+	18	2767	c.2125G>T	c.(2125-2127)Ggg>Tgg	p.G709W	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.G693W	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	693					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GAACGAAGTAGGGAGAAGTCA	0.473000													8	44					5.18039e-06	6.36904e-06	0.003080	1	0
EXOC2	55770	broad.mit.edu	37	6	592520	592520	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:592520T>A	ENST00000230449.4	-	11	1276	c.1141A>T	c.(1141-1143)Atc>Ttc	p.I381F	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	381					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		AGCTGAAGGATCCACTTGTGT	0.478000													8	45					0	0	0.003080	0	0
ZNF425	155054	broad.mit.edu	37	7	148802280	148802280	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:148802280C>A	ENST00000378061.2	-	4	815	c.683G>T	c.(682-684)aGa>aTa	p.R228I		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	228					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGACTTCCCTCTGGACGAGTT	0.527000													15	37					1.52009e-12	2.2274e-12	0.024245	1	0
SLITRK2	84631	broad.mit.edu	37	X	144906230	144906230	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chrX:144906230G>T	ENST00000370490.1	+	1	6542	c.2287G>T	c.(2287-2289)Gtc>Ttc	p.V763F	SLITRK2_ENST00000428560.2_Missense_Mutation_p.V763F|SLITRK2_ENST00000447897.2_Missense_Mutation_p.V763F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.V763F|SLITRK2_ENST00000434188.2_Missense_Mutation_p.V763F			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	763						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGAGCGAGTCAAGGAACT	0.493000													27	53					3.65163e-15	5.61428e-15	0.006320	1	0
OR2T10	127069	broad.mit.edu	37	1	248756268	248756268	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:248756268G>T	ENST00000330500.2	-	1	832	c.802C>A	c.(802-804)Cct>Act	p.P268T		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTTTCTCAGGAGTTTGGTAG	0.438000													32	11					2.47511e-08	3.29708e-08	0.008361	1	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350531	51350531	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr15:51350531G>T	ENST00000327536.5	-	3	525	c.426C>A	c.(424-426)agC>agA	p.S142R	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	142										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		CAAAGATCTCGCTGCTGGTGT	0.428000													38	40					2.75727e-19	4.45883e-19	0.021022	1	0
MYO18B	84700	broad.mit.edu	37	22	26388390	26388390	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr22:26388390C>A	ENST00000335473.7	+	40	6468	c.6218C>A	c.(6217-6219)tCc>tAc	p.S2073Y	MYO18B_ENST00000407587.2_Missense_Mutation_p.S2074Y|MYO18B_ENST00000536101.1_Missense_Mutation_p.S2073Y	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2073	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTGGAGACATCCATTCGGCGG	0.582000													18	17					6.49762e-13	9.56002e-13	0.006122	1	0
PRDM9	56979	broad.mit.edu	37	5	23521200	23521200	+	Silent	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:23521200G>A	ENST00000296682.3	+	6	602	c.420G>A	c.(418-420)ctG>ctA	p.L140L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	140					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAAATTTACTGAATGCAAGTG	0.408000										HNSCC(3;0.000094)			31	35					0	0	0.008361	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713758	70713758	+	RNA	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:70713758G>T	ENST00000530196.1	-	0	760					NR_003951.1																						CAGAAACCATGCATGAGTCCA	0.438000													14	89					1.5739e-10	2.24664e-10	0.028581	1	0
PLXNA2	5362	broad.mit.edu	37	1	208269401	208269401	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:208269401T>G	ENST00000367033.3	-	8	2712	c.1955A>C	c.(1954-1956)aAg>aCg	p.K652T		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	652					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GTTGTAAAACTTGAACTCGGT	0.483000													12	392					0	0	0.013537	0	0
PRKDC	5591	broad.mit.edu	37	8	48772321	48772321	+	Splice_Site	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:48772321C>T	ENST00000314191.2	-	47	6112		c.e47-1		PRKDC_ENST00000523565.1_Splice_Site|PRKDC_ENST00000338368.3_Splice_Site	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide						cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GAAGGACCATCTGAAATATAA	0.313000								Non-homologous end-joining					4	41					0	0	0.009096	0	0
PDGFRA	5156	broad.mit.edu	37	4	55136873	55136873	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:55136873G>A	ENST00000257290.5	+	8	1526	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	399	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGCTCAAAATGAAGATGCTGT	0.358000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			10	66					0	0	0.010729	0	0
ANK2	287	broad.mit.edu	37	4	114276239	114276239	+	Silent	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:114276239G>A	ENST00000357077.4	+	38	6518	c.6465G>A	c.(6463-6465)ctG>ctA	p.L2155L	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.L2122L|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2122					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AATTCCGCCTGAGTGAGGAGA	0.438000													15	86					0	0	0.020292	0	0
LAMB1	3912	broad.mit.edu	37	7	107580467	107580467	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:107580467A>G	ENST00000393561.1	-	23	3984	c.3800T>C	c.(3799-3801)cTg>cCg	p.L1267P	LAMB1_ENST00000222399.6_Missense_Mutation_p.L1243P			P07942	LAMB1_HUMAN	laminin, beta 1	1243	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATGTTTTTCAGTGGCTCTGC	0.468000													7	160					0	0	0.001984	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121659302	121659302	+	Silent	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:121659302G>T	ENST00000393386.2	+	13	5379	c.4968G>T	c.(4966-4968)gtG>gtT	p.V1656V	PTPRZ1_ENST00000449182.1_Silent_p.V796V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1656					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGGTTCTTGTGGGTATTCTCA	0.403000													15	48					3.45872e-05	4.12518e-05	0.028581	1	0
PDHA2	5161	broad.mit.edu	37	4	96761995	96761995	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:96761995G>A	ENST00000295266.4	+	1	757	c.694G>A	c.(694-696)Gag>Aag	p.E232K		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	232					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AACATCTACTGAGAGAGCAGC	0.448000													20	51					0	0	0.007413	0	0
OR10S1	219873	broad.mit.edu	37	11	123847658	123847658	+	Silent	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:123847658G>C	ENST00000531945.1	-	1	830	c.741C>G	c.(739-741)ggC>ggG	p.G247G		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCCGCTGCCGGCCCTGGGCTG	0.612000													5	32					0	0	0.021553	0	0
CSMD3	114788	broad.mit.edu	37	8	113563015	113563015	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:113563015C>G	ENST00000297405.5	-	27	4693	c.4449G>C	c.(4447-4449)aaG>aaC	p.K1483N	CSMD3_ENST00000352409.3_Missense_Mutation_p.K1483N|CSMD3_ENST00000343508.3_Missense_Mutation_p.K1443N|CSMD3_ENST00000455883.2_Missense_Mutation_p.K1379N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1483	CUB 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACTAATTTCCTTTAAAAGCA	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	69					0	0	0.007413	0	0
TTC3	7267	broad.mit.edu	37	21	38537944	38537944	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr21:38537944G>T	ENST00000399017.2	+	33	6175	c.3428G>T	c.(3427-3429)cGa>cTa	p.R1143L	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.R1143L|TTC3_ENST00000355666.1_Missense_Mutation_p.R1143L	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1143					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R1143L(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GAAGAAACTCGACAGATACTA	0.403000													32	88					8.88839e-20	1.4406e-19	0.010818	1	0
OR1D4	653166	broad.mit.edu	37	17	3144031	3144031	+	RNA	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:3144031C>A	ENST00000531680.1	+	0	62					NR_033795.1				olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene)																		TCAGAGAGTCCTGAGCAGCAG	0.488000													36	129					2.40579e-17	3.78807e-17	0.025465	1	0
DEPDC1	55635	broad.mit.edu	37	1	68960168	68960168	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:68960168C>A	ENST00000456315.2	-	2	373	c.259G>T	c.(259-261)Gat>Tat	p.D87Y	DEPDC1_ENST00000370966.5_Missense_Mutation_p.D87Y	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	87	DEP.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CCTTTGATATCTTCAATTACA	0.333000													6	25					3.59834e-05	4.22849e-05	0.021553	1	0
DYNC1I1	1780	broad.mit.edu	37	7	95657570	95657570	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:95657570G>T	ENST00000324972.6	+	11	1297	c.1104G>T	c.(1102-1104)tgG>tgT	p.W368C	DYNC1I1_ENST00000537881.1_Missense_Mutation_p.W331C|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.W351C|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.W351C|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.W331C|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.W348C	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	368					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TTGTCCTCTGGGACAATCGCA	0.547000													26	181					1.85244e-09	2.57264e-09	0.018920	1	0
DIO3	1735	broad.mit.edu	37	14	102028308	102028308	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:102028308C>T	ENST00000359323.3	+	1	621	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	DIO3_ENST00000510508.4_Missense_Mutation_p.R159C	NM_001362.3	NP_001353.4	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	133					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GCAAGGGAACCGCCCGCTGGT	0.652000													10	26					0	0	0.010729	0	0
PPFIA2	8499	broad.mit.edu	37	12	81839380	81839380	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:81839380C>A	ENST00000550584.2	-	5	820	c.525G>T	c.(523-525)aaG>aaT	p.K175N	PPFIA2_ENST00000552948.1_Missense_Mutation_p.K175N|PPFIA2_ENST00000548586.1_Missense_Mutation_p.K175N|PPFIA2_ENST00000549325.1_Missense_Mutation_p.K157N|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000549396.1_Missense_Mutation_p.K175N|PPFIA2_ENST00000443686.3_Missense_Mutation_p.K101N|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000550359.2_Missense_Mutation_p.K22N|PPFIA2_ENST00000333447.7_Missense_Mutation_p.K157N|PPFIA2_ENST00000407050.4_Missense_Mutation_p.K101N	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	101										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATTTCAGTGCCTTGAGAACTT	0.438000													13	65					4.3838e-07	5.60066e-07	0.016723	1	0
MROH7	374977	broad.mit.edu	37	1	55167807	55167807	+	Silent	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:55167807G>A	ENST00000414150.2	+	20	3608	c.3330G>A	c.(3328-3330)aaG>aaA	p.K1110K	MROH7_ENST00000454855.2_Silent_p.K628K|MROH7_ENST00000421030.2_Silent_p.K1110K|MROH7_ENST00000409996.1_Silent_p.K678K					maestro heat-like repeat family member 7																		TGTATGGGAAGGTGGTCCAGA	0.632000													5	28					0	0	0.014758	0	0
LANCL2	55915	broad.mit.edu	37	7	55493123	55493123	+	Splice_Site	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:55493123G>T	ENST00000254770.2	+	7	1763	c.1185_splice	c.e7+1	p.K395_splice		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	395					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			GAGCTTGCAAGGTGAGGGTGG	0.517000													16	74					1.15088e-07	1.49427e-07	0.028581	1	0
LAMB3	3914	broad.mit.edu	37	1	209799187	209799187	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:209799187C>A	ENST00000391911.1	-	13	2171	c.1782G>T	c.(1780-1782)gaG>gaT	p.E594D	LAMB3_ENST00000367030.3_Missense_Mutation_p.E594D|LAMB3_ENST00000356082.4_Missense_Mutation_p.E594D	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	594	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCAGGGCCTGCTCCCGGAGGT	0.662000													13	10					5.50884e-06	6.72678e-06	0.013537	1	0
SNX24	28966	broad.mit.edu	37	5	122281795	122281795	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:122281795A>T	ENST00000261369.4	+	3	375	c.190A>T	c.(190-192)Agg>Tgg	p.R64W	SNX24_ENST00000513881.1_Missense_Mutation_p.R64W|SNX24_ENST00000395451.4_Missense_Mutation_p.R97W|SNX24_ENST00000506996.1_Missense_Mutation_p.R64W|SNX24_ENST00000511211.1_3'UTR	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	64	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		TAAACATGTTAGGAACTGGGT	0.323000													4	25					0	0	0.021553	0	0
RYR2	6262	broad.mit.edu	37	1	237923091	237923091	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:237923091C>T	ENST00000366574.2	+	83	11658	c.11341C>T	c.(11341-11343)Ctc>Ttc	p.L3781F	RYR2_ENST00000542537.1_Missense_Mutation_p.L3765F|RYR2_ENST00000360064.6_Missense_Mutation_p.L3787F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3781					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTTGACTACCTCAAGGAGAA	0.428000													18	149					0	0	0.007413	0	0
CYTIP	9595	broad.mit.edu	37	2	158275081	158275081	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:158275081C>A	ENST00000264192.3	-	7	688	c.567G>T	c.(565-567)tgG>tgT	p.W189C	CYTIP_ENST00000540637.1_Missense_Mutation_p.W83C	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	189					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TGTACTCCACCCATTTTTGTT	0.333000													9	54					1.12685e-05	1.37132e-05	0.004482	1	0
ABCB7	22	broad.mit.edu	37	X	74291487	74291487	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chrX:74291487C>A	ENST00000253577.3	-	9	1091	c.1067G>T	c.(1066-1068)aGa>aTa	p.R356I	ABCB7_ENST00000373394.3_Missense_Mutation_p.R355I|ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000339447.4_Missense_Mutation_p.R315I	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	355	ABC transmembrane type-1.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TCCATCATATCTCTGTGCTTC	0.303000													16	26					0.000422831	0.000473624	0.028581	1	0
RSPH9	221421	broad.mit.edu	37	6	43638529	43638529	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:43638529C>A	ENST00000372163.4	+	5	727	c.674C>A	c.(673-675)tCc>tAc	p.S225Y	RSPH9_ENST00000372165.4_Silent_p.V242V	NM_152732.4	NP_689945.2	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	225					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ATCTCAGGGTCCTGGAGCATC	0.642000									Kartagener syndrome				9	12					5.4927e-09	7.48342e-09	0.004482	1	0
SLC45A2	51151	broad.mit.edu	37	5	33947415	33947415	+	Silent	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:33947415C>G	ENST00000382102.3	-	6	1278	c.1221G>C	c.(1219-1221)ctG>ctC	p.L407L	SLC45A2_ENST00000296589.4_Silent_p.L407L|SLC45A2_ENST00000342059.3_Silent_p.L348L	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	407					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CCAGGCCAAACAGCAAATATC	0.483000													31	335					0	0	0.009535	0	0
DNAH2	146754	broad.mit.edu	37	17	7636533	7636533	+	Silent	SNP	T	T	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:7636533T>C	ENST00000572933.1	+	5	1988	c.528T>C	c.(526-528)ggT>ggC	p.G176G	DNAH2_ENST00000570791.1_Silent_p.G176G|DNAH2_ENST00000389173.2_Silent_p.G176G|DNAH2_ENST00000082259.3_Silent_p.G176G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	176	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGCTGCTCGGTGGAGTCTTTG	0.562000													17	29					0	0	0.028581	0	0
COL22A1	169044	broad.mit.edu	37	8	139636013	139636013	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:139636013C>G	ENST00000303045.6	-	52	4179	c.3733G>C	c.(3733-3735)Gag>Cag	p.E1245Q	COL22A1_ENST00000435777.1_Missense_Mutation_p.E1225Q|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1245	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTCTGCCCTCTTTGCCTTCT	0.453000										HNSCC(7;0.00092)			8	210					0	0	0.003080	0	0
ASTN1	460	broad.mit.edu	37	1	177030246	177030246	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:177030246C>A	ENST00000367654.2	-	2	452	c.439G>T	c.(439-441)Gag>Tag	p.E147*	ASTN1_ENST00000367657.3_Nonsense_Mutation_p.E147*|ASTN1_ENST00000361833.2_Nonsense_Mutation_p.E147*|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Nonsense_Mutation_p.E147*			O14525	ASTN1_HUMAN	astrotactin 1	147					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTCAGCTCCTCTTCTGCCGAC	0.498000													37	222					3.62531e-18	5.75878e-18	0.019004	1	0
MT-CO1	4512	broad.mit.edu	37	MT	7321	7321	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chrM:7321G>A	ENST00000361624.2	+	1	1418	c.1418G>A	c.(1417-1419)tGa>tAa	p.473_473ins*						mitochondrially encoded cytochrome c oxidase I											breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TTTCATGATTTGAGAAGCCTT	0.423000													102	746					0	0	0.014410	0	0
KCTD8	386617	broad.mit.edu	37	4	44176901	44176901	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:44176901C>T	ENST00000360029.3	-	2	1611	c.1328G>A	c.(1327-1329)tGt>tAt	p.C443Y		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	443						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ATCCTGAATACACTTTTTCAT	0.388000										HNSCC(17;0.042)			13	147					0	0	0.016723	0	0
SKA3	221150	broad.mit.edu	37	13	21742230	21742230	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr13:21742230C>T	ENST00000314759.5	-	4	764	c.640G>A	c.(640-642)Gag>Aag	p.E214K	SKA3_ENST00000400018.3_Missense_Mutation_p.E214K	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	214					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	p.E214K(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GTTACACACTCAAAATCATCC	0.328000													8	32					0	0	0.003080	0	0
ENOX1	55068	broad.mit.edu	37	13	43798206	43798206	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr13:43798206G>A	ENST00000261488.6	-	16	2360	c.1783C>T	c.(1783-1785)Cag>Tag	p.Q595*	ENOX1_ENST00000412891.1_Nonsense_Mutation_p.Q595*	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	595					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TCCAGCTGCTGCATGTATGAC	0.398000													8	21					0	0	0.004482	0	0
TNN	63923	broad.mit.edu	37	1	175096171	175096171	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:175096171C>A	ENST00000239462.4	+	13	3108	c.2995C>A	c.(2995-2997)Cag>Aag	p.Q999K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	999	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCCCTCTGCTCAGATCCACGG	0.522000													32	187					9.04072e-19	1.45218e-18	0.015359	1	0
CACNA1E	777	broad.mit.edu	37	1	181549863	181549863	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:181549863C>G	ENST00000526775.1	+	6	1067	c.902C>G	c.(901-903)aCt>aGt	p.T301S	CACNA1E_ENST00000358338.5_Missense_Mutation_p.T252S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T301S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T301S|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367573.2_Missense_Mutation_p.T301S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T252S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	301					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCTGTGCTGACTGTCTTCCAG	0.542000													26	75					0	0	0.021523	0	0
CROCC	9696	broad.mit.edu	37	1	17249187	17249187	+	Silent	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:17249187G>A	ENST00000375541.5	+	2	159	c.90G>A	c.(88-90)gaG>gaA	p.E30E		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	30					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGTGCCAGGAGAAAGGCTTGG	0.652000													11	51					0	0	0.010729	0	0
RYR2	6262	broad.mit.edu	37	1	237941969	237941969	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:237941969C>T	ENST00000366574.2	+	88	12096	c.11779C>T	c.(11779-11781)Cct>Tct	p.P3927S	RYR2_ENST00000542537.1_Missense_Mutation_p.P3911S|RYR2_ENST00000360064.6_Missense_Mutation_p.P3933S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3927					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTCCAGGGTCCTTGCACTGG	0.443000													14	52					0	0	0.020292	0	0
INSC	387755	broad.mit.edu	37	11	15247237	15247237	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:15247237G>T	ENST00000379554.3	+	9	1220	c.1174G>T	c.(1174-1176)Gcc>Tcc	p.A392S	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000525218.1_Missense_Mutation_p.A303S|INSC_ENST00000379556.3_Missense_Mutation_p.A345S|INSC_ENST00000528567.1_Missense_Mutation_p.A345S|INSC_ENST00000424273.1_Missense_Mutation_p.A303S|INSC_ENST00000530161.1_Missense_Mutation_p.A345S	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	392					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CTTCCTACTGGCCTCTGCGGC	0.507000													3	28					0.004672	0.00498439	0.004672	1	0
TRPC6	7225	broad.mit.edu	37	11	101359687	101359687	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:101359687C>T	ENST00000344327.3	-	4	1698	c.1274G>A	c.(1273-1275)tGg>tAg	p.W425*	TRPC6_ENST00000532133.1_Nonsense_Mutation_p.W425*|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000360497.4_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	425					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGGAGCAAACCAGTAAATGAG	0.428000													13	70					0	0	0.016723	0	0
SALL4	57167	broad.mit.edu	37	20	50401195	50401195	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr20:50401195T>C	ENST00000217086.4	-	4	2882	c.2771A>G	c.(2770-2772)aAt>aGt	p.N924S	SALL4_ENST00000395997.3_Missense_Mutation_p.N487S|SALL4_ENST00000371539.3_Missense_Mutation_p.N147S	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	924					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGCTGAGTTATTGTTCGCCCC	0.468000													8	26					0	0	0.003080	0	0
PSAT1	29968	broad.mit.edu	37	9	80919661	80919661	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr9:80919661G>T	ENST00000376588.3	+	4	270	c.202G>T	c.(202-204)Gac>Tac	p.D68Y	PSAT1_ENST00000347159.2_Missense_Mutation_p.D68Y	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	68					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	AGCTGTTCCAGACAACTATAA	0.458000													13	22					1.3612e-06	1.70566e-06	0.024245	1	0
ZNF623	9831	broad.mit.edu	37	8	144733541	144733541	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:144733541C>A	ENST00000501748.2	+	1	1588	c.1499C>A	c.(1498-1500)aCa>aAa	p.T500K	ZNF623_ENST00000526926.1_Missense_Mutation_p.T460K|ZNF623_ENST00000458270.2_Missense_Mutation_p.T460K	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AACTCAACTACAAACGTTAAA	0.413000													8	198					1.06961e-07	1.39887e-07	0.003080	1	0
GRIA4	2893	broad.mit.edu	37	11	105795480	105795480	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:105795480G>T	ENST00000393127.2	+	12	2278	c.1832G>T	c.(1831-1833)tGt>tTt	p.C611F	GRIA4_ENST00000525187.1_Missense_Mutation_p.C611F|GRIA4_ENST00000530497.1_Missense_Mutation_p.C611F|GRIA4_ENST00000282499.5_Missense_Mutation_p.C611F	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	611					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CAGCAAGGATGTGACATTTCA	0.443000													8	54					2.17888e-05	2.61611e-05	0.006214	1	0
ABCA13	154664	broad.mit.edu	37	7	48452012	48452012	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:48452012C>G	ENST00000435803.1	+	41	12315	c.12291C>G	c.(12289-12291)atC>atG	p.I4097M		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4097					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGATAAAGATCTATATTCCAC	0.443000													3	102					0	0	0.004672	0	0
LRBA	987	broad.mit.edu	37	4	151749751	151749751	+	Silent	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:151749751G>A	ENST00000535741.1	-	30	5225	c.4752C>T	c.(4750-4752)agC>agT	p.S1584S	LRBA_ENST00000510413.1_Silent_p.S1584S|LRBA_ENST00000507224.1_Silent_p.S1584S|LRBA_ENST00000357115.3_Silent_p.S1584S			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1584						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TAGTTAAAGTGCTGAATGCTG	0.388000													77	431					0	0	0.014410	0	0
CCDC129	223075	broad.mit.edu	37	7	31683378	31683378	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:31683378C>A	ENST00000319386.3	+	11	2943	c.1950C>A	c.(1948-1950)tgC>tgA	p.C650*	CCDC129_ENST00000409210.1_Nonsense_Mutation_p.C706*|CCDC129_ENST00000407970.3_Nonsense_Mutation_p.C798*|CCDC129_ENST00000451887.2_Nonsense_Mutation_p.C824*			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	798										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGGGCACCTGCCATGCTATAC	0.577000													49	24					6.3008e-33	1.0695e-32	0.014410	1	0
OR10Z1	128368	broad.mit.edu	37	1	158576722	158576722	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:158576722A>G	ENST00000361284.1	+	1	494	c.494A>G	c.(493-495)cAc>cGc	p.H165R		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GTTATTTTCCACCTCTCATTC	0.512000													25	130					0	0	0.006320	0	0
PSENEN	55851	broad.mit.edu	37	19	36237643	36237643	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr19:36237643G>T	ENST00000587708.2	+	4	884	c.201G>T	c.(199-201)tgG>tgT	p.W67C	PSENEN_ENST00000591949.1_3'UTR|AC002398.9_ENST00000591613.2_Intron|PSENEN_ENST00000222266.2_Missense_Mutation_p.W67C			Q9NZ42	PEN2_HUMAN	presenilin enhancer gamma secretase subunit	67					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	aspartic-type endopeptidase activity|protein binding			central_nervous_system(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCTCTTCTGGGTGATAGTGC	0.607000													71	38					3.76054e-38	6.41346e-38	0.014410	1	0
CNTNAP3	79937	broad.mit.edu	37	9	39178266	39178266	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr9:39178266C>A	ENST00000297668.6	-	5	703	c.630G>T	c.(628-630)ttG>ttT	p.L210F	CNTNAP3_ENST00000323947.7_Missense_Mutation_p.L210F|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.L210F|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.L210F|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.L122F|CNTNAP3_ENST00000377653.2_5'UTR	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	210	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTTTAAATTTCAAAGAAATAA	0.338000													29	50					1.2476e-16	1.94311e-16	0.006320	1	0
GUCY2C	2984	broad.mit.edu	37	12	14796519	14796519	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:14796519G>A	ENST00000261170.3	-	17	2055	c.1919C>T	c.(1918-1920)cCt>cTt	p.P640L		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	640	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CTTTTTTGGAGGTAAAATGGA	0.388000													11	79					0	0	0.013537	0	0
EPHA1	2041	broad.mit.edu	37	7	143088839	143088839	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:143088839C>T	ENST00000275815.3	-	17	2812	c.2726G>A	c.(2725-2727)gGc>gAc	p.G909D		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	909						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CCCATCTGAGCCACTCAGGCT	0.582000													13	41					0	0	0.024245	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307154	140307154	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:140307154C>T	ENST00000253807.2	+	1	677	c.677C>T	c.(676-678)aCa>aTa	p.T226I	PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.T226I|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTGGACACAAATGACAAC	0.582000													8	34					0	0	0.004482	0	0
ERBB4	2066	broad.mit.edu	37	2	212286761	212286761	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:212286761G>C	ENST00000342788.4	-	24	3245	c.2935C>G	c.(2935-2937)Cga>Gga	p.R979G	ERBB4_ENST00000402597.1_Missense_Mutation_p.R969G|ERBB4_ENST00000436443.1_Missense_Mutation_p.R979G	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	979	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGAGGGTCTCGAGCCATCCTT	0.403000										TSP Lung(8;0.080)			3	37					0	0	0.009096	0	0
YIPF1	54432	broad.mit.edu	37	1	54331985	54331985	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:54331985G>A	ENST00000072644.1	-	9	1055	c.719C>T	c.(718-720)tCt>tTt	p.S240F	YIPF1_ENST00000371399.1_Missense_Mutation_p.S57F|YIPF1_ENST00000539954.1_Missense_Mutation_p.S265F|YIPF1_ENST00000469457.1_5'UTR	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	240						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						TGCCAAGAGAGATCCTGAGAT	0.483000													18	54					0	0	0.007413	0	0
WWTR1	25937	broad.mit.edu	37	3	149374755	149374755	+	Silent	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:149374755G>A	ENST00000465804.1	-	3	595	c.339C>T	c.(337-339)ctC>ctT	p.L113L	WWTR1_ENST00000360632.3_Silent_p.L113L|WWTR1_ENST00000467467.1_Silent_p.L113L	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	113					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			ACTGCTGGCGGAGGTGCGCGT	0.701000			T	CAMTA1	epitheliod hemangioendothelioma								4	4					0	0	0.009096	0	0
ITIH2	3698	broad.mit.edu	37	10	7774362	7774362	+	Nonsense_Mutation	SNP	C	C	A	rs150529114		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr10:7774362C>A	ENST00000358415.4	+	14	1875	c.1709C>A	c.(1708-1710)tCg>tAg	p.S570*	ITIH2_ENST00000379587.4_Nonsense_Mutation_p.S559*	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	570					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.S570L(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GATTTTCTATCGAAAGACAAG	0.488000													5	67					3.59834e-05	4.22849e-05	0.021553	1	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077082	57077082	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:57077082C>A	ENST00000532437.1	-	5	3414	c.3103G>T	c.(3103-3105)Gtg>Ttg	p.V1035L	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.V1035L			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1035	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCATCCGGCACGTGGGCAGTG	0.632000													20	49					1.96292e-10	2.78533e-10	0.010504	1	0
TTLL2	83887	broad.mit.edu	37	6	167754214	167754214	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:167754214G>T	ENST00000239587.5	+	3	914	c.826G>T	c.(826-828)Ggg>Tgg	p.G276W		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	276	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTATCAGGAAGGGTTGGTTCG	0.398000													26	130					4.59853e-10	6.43615e-10	0.027356	1	0
HAGH	3029	broad.mit.edu	37	16	1872326	1872326	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr16:1872326T>G	ENST00000397356.3	-	3	695	c.289A>C	c.(289-291)Aca>Cca	p.T97P	HAGH_ENST00000397353.2_Missense_Mutation_p.T49P|HAGH_ENST00000455446.2_Missense_Mutation_p.T97P|HAGH_ENST00000566709.1_Missense_Mutation_p.T49P	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	97					glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	GTGAGCACTGTGGTCAGTTTC	0.642000													3	10					0	0	0.004672	0	0
SULT1B1	27284	broad.mit.edu	37	4	70615457	70615457	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:70615457G>T	ENST00000310613.2	-	4	654	c.357C>A	c.(355-357)ttC>ttA	p.F119L		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	119					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TGTTTTCCCAGAAAGATTTAG	0.353000													37	79					9.45814e-24	1.56473e-23	0.021022	1	0
BMPER	168667	broad.mit.edu	37	7	34085917	34085917	+	Splice_Site	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:34085917G>C	ENST00000297161.2	+	8	950		c.e8-1		BMPER_ENST00000426693.1_Splice_Site|BMPER_ENST00000494786.1_Splice_Site	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator						blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TCTTTTCTTAGGGAGGCAGGA	0.433000													60	413					0	0	0.014410	0	0
ATP2B3	492	broad.mit.edu	37	X	152806888	152806888	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chrX:152806888C>T	ENST00000370186.1	+	3	606	c.280C>T	c.(280-282)Caa>Taa	p.Q94*	ATP2B3_ENST00000393842.1_Nonsense_Mutation_p.Q94*|ATP2B3_ENST00000370181.2_Nonsense_Mutation_p.Q94*|ATP2B3_ENST00000349466.2_Nonsense_Mutation_p.Q94*|ATP2B3_ENST00000359149.3_Nonsense_Mutation_p.Q94*|ATP2B3_ENST00000263519.4_Nonsense_Mutation_p.Q94*			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	94					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCCAAAGCAACCCAAGAC	0.612000													7	1					0	0	0.003080	0	0
NAV2	89797	broad.mit.edu	37	11	20101754	20101754	+	Splice_Site	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:20101754G>C	ENST00000396085.1	+	25	5685	c.5325_splice	c.e25+1	p.W1775_splice	NAV2_ENST00000396087.3_Splice_Site_p.W1831_splice|NAV2_ENST00000311043.8_Splice_Site_p.W839_splice|NAV2_ENST00000540292.1_Splice_Site_p.W1762_splice|NAV2_ENST00000360655.4_Splice_Site_p.W1711_splice|NAV2_ENST00000349880.4_Splice_Site_p.W1775_splice|NAV2_ENST00000527559.2_Splice_Site_p.W1760_splice|NAV2_ENST00000533917.1_Splice_Site_p.W839_splice	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1831						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CGGAAGAACTGGGTGAGTGCA	0.552000													10	43					0	0	0.006214	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5146398	5146398	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:5146398G>C	ENST00000274181.7	+	3	469	c.331G>C	c.(331-333)Gat>Cat	p.D111H	CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Missense_Mutation_p.D111H	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	111					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CTTCCACATGGATCTGAGGAC	0.547000													15	68					0	0	0.028581	0	0
SYNE2	23224	broad.mit.edu	37	14	64469443	64469443	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:64469443C>T	ENST00000358025.3	+	30	4022	c.3792C>T	c.(3790-3792)atC>atT	p.I1264I	SYNE2_ENST00000344113.4_Silent_p.I1264I|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.I1264I	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1264					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTTAGAATATCCAAGATTCCA	0.368000													21	58					0	0	0.010504	0	0
CAMK4	814	broad.mit.edu	37	5	110814128	110814128	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:110814128T>A	ENST00000282356.4	+	9	1149	c.751T>A	c.(751-753)Ttc>Atc	p.F251I	CAMK4_ENST00000512453.1_Missense_Mutation_p.F251I	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	251	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TCAGTTCATGTTCAGGAGAAT	0.343000													25	94					0	0	0.007291	0	0
UNC45B	146862	broad.mit.edu	37	17	33510569	33510569	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:33510569C>G	ENST00000268876.5	+	19	2600	c.2503C>G	c.(2503-2505)Cac>Gac	p.H835D	UNC45B_ENST00000394570.2_Missense_Mutation_p.H833D|UNC45B_ENST00000591048.1_Missense_Mutation_p.H754D|UNC45B_ENST00000433649.1_Missense_Mutation_p.H833D|UNC45B_ENST00000378449.1_Missense_Mutation_p.H754D	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	835					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GACAGCAGCACACAAGAAACT	0.602000													6	27					0	0	0.003080	0	0
TMTC3	160418	broad.mit.edu	37	12	88542250	88542250	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:88542250A>C	ENST00000266712.6	+	2	378	c.158A>C	c.(157-159)cAa>cCa	p.Q53P		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	53						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						ACTTTATTTCAAAATGACTTC	0.323000													7	16					0	0	0.003080	0	0
CHD3	1107	broad.mit.edu	37	17	7794055	7794055	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:7794055A>C	ENST00000380358.4	+	3	558	c.557A>C	c.(556-558)cAa>cCa	p.Q186P	CHD3_ENST00000358181.4_Missense_Mutation_p.Q127P|CHD3_ENST00000330494.7_Missense_Mutation_p.Q127P	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	127					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GATGGGGGGCAAAAGGTGAGT	0.512000													22	22					0	0	0.012319	0	0
NRP2	8828	broad.mit.edu	37	2	206641178	206641178	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:206641178C>T	ENST00000357118.4	+	16	2665	c.2634C>T	c.(2632-2634)acC>acT	p.T878T	NRP2_ENST00000360409.3_Intron|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000357785.5_Intron|NRP2_ENST00000412873.2_Intron|NRP2_ENST00000540178.1_Intron|NRP2_ENST00000272849.3_Silent_p.T883T	NM_201267.1	NP_957719.1	O60462	NRP2_HUMAN	neuropilin 2	0					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCCACTACACCAACGGGGCCC	0.607000											OREG0015157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	89					0	0	0.028581	0	0
FEM1B	10116	broad.mit.edu	37	15	68570886	68570886	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr15:68570886G>T	ENST00000306917.4	+	1	746	c.131G>T	c.(130-132)gGg>gTg	p.G44V		NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	44					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CAGCAGGGAGGGCAGCGCTCC	0.612000													10	26					0.000442599	0.000493457	0.006214	1	0
EYA2	2139	broad.mit.edu	37	20	45717915	45717915	+	Silent	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr20:45717915G>A	ENST00000327619.5	+	8	1073	c.699G>A	c.(697-699)gcG>gcA	p.A233A	EYA2_ENST00000317304.6_Silent_p.A233A|EYA2_ENST00000357410.3_Silent_p.A233A	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	233					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCACACCAGCGAAAGAGGGAG	0.582000													24	43					0	0	0.018920	0	0
CDK14	5218	broad.mit.edu	37	7	90741857	90741857	+	Splice_Site	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:90741857G>C	ENST00000406263.1	+	12	1459	c.1016_splice	c.e12-1	p.K339_splice	CDK14_ENST00000380050.3_Splice_Site_p.K385_splice|CDK14_ENST00000436577.2_Splice_Site_p.K256_splice|CDK14_ENST00000265741.3_Splice_Site_p.K367_splice			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	385	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	p.K367N(1)		breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						ATGTTTTTAGGCTCAGCTATG	0.428000													89	312					0	0	0.014410	0	0
LRRK1	79705	broad.mit.edu	37	15	101552319	101552319	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr15:101552319A>G	ENST00000284395.5	+	11	1779	c.1379A>G	c.(1378-1380)aAa>aGa	p.K460R	LRRK1_ENST00000388948.3_Missense_Mutation_p.K463R			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	463					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AACGCACTCAAAGAAGTTCCC	0.428000													17	85					0	0	0.028581	0	0
KCNA5	3741	broad.mit.edu	37	12	5154195	5154195	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:5154195C>T	ENST00000252321.3	+	1	1111	c.882C>T	c.(880-882)ccC>ccT	p.P294P		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	294						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CTCCCGCGCCCGCCCCTGGGG	0.697000													3	11					0	0	0.004672	0	0
IGHV3-64	28414	broad.mit.edu	37	14	107113911	107113911	+	RNA	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:107113911C>T	ENST00000454421.2	-	0	260																											AGTCCCTTCCCTGGAGCCTGG	0.527000													43	244					0	0	0.014410	0	0
TTF1	7270	broad.mit.edu	37	9	135277845	135277845	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr9:135277845C>G	ENST00000334270.2	-	2	403	c.364G>C	c.(364-366)Gat>Cat	p.D122H		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	122	N-terminal region (NRD) (By similarity).				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ACATCAACATCCTTTCTAAAA	0.373000													17	58					0	0	0.006122	0	0
UNC79	57578	broad.mit.edu	37	14	94156521	94156521	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:94156521G>T	ENST00000553484.1	+	47	7481	c.7327G>T	c.(7327-7329)Ggt>Tgt	p.G2443C	UNC79_ENST00000256339.4_Missense_Mutation_p.G2244C|UNC79_ENST00000555664.1_Missense_Mutation_p.G2382C|UNC79_ENST00000393151.2_Missense_Mutation_p.G2421C			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2421						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCTGCTGCTGGGTTCCCTCAC	0.473000													19	100					7.07596e-05	8.18122e-05	0.006122	1	0
PEAR1	375033	broad.mit.edu	37	1	156880522	156880522	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:156880522C>T	ENST00000338302.3	+	16	2163	c.1938C>T	c.(1936-1938)ccC>ccT	p.P646P	PEAR1_ENST00000292357.7_Silent_p.P646P			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	646	EGF-like 8.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGACAGGCCCCGACTGCTCCC	0.632000													4	26					0	0	0.009096	0	0
PLCH1	23007	broad.mit.edu	37	3	155241685	155241685	+	Splice_Site	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:155241685C>A	ENST00000460012.1	-	11	1738		c.e11+1		PLCH1_ENST00000494598.1_Splice_Site|PLCH1_ENST00000414191.1_Splice_Site|PLCH1_ENST00000334686.6_Splice_Site|PLCH1_ENST00000447496.2_Splice_Site|PLCH1_ENST00000340059.7_Splice_Site			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1						lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTGCAACTTACATAATGGAGC	0.428000													18	77					1.45105e-14	2.18418e-14	0.006122	1	0
TSPAN17	26262	broad.mit.edu	37	5	176083133	176083133	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:176083133G>T	ENST00000405525.2	+	6	866	c.637G>T	c.(637-639)Ggg>Tgg	p.G213W	TSPAN17_ENST00000503045.1_Missense_Mutation_p.G190W|TSPAN17_ENST00000515708.1_Intron|TSPAN17_ENST00000508164.1_Intron|TSPAN17_ENST00000298564.10_Intron|TSPAN17_ENST00000310032.8_Missense_Mutation_p.G213W	NM_001006616.2	NP_001006617.2	Q96FV3	TSN17_HUMAN	tetraspanin 17	210						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTGGTGAGAGGGGTAGGAAC	0.592000													13	23					7.03913e-09	9.51807e-09	0.013537	1	0
POTEG	404785	broad.mit.edu	37	14	19563492	19563492	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:19563492C>G	ENST00000409832.3	+	5	1058	c.1006C>G	c.(1006-1008)Cta>Gta	p.L336V	CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	336										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TTCTCAAGATCTATCTGGACA	0.368000													17	212					0	0	0.006122	0	0
EMR1	2015	broad.mit.edu	37	19	6921744	6921744	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr19:6921744G>T	ENST00000312053.4	+	14	1678	c.1641G>T	c.(1639-1641)agG>agT	p.R547S	EMR1_ENST00000250572.8_Missense_Mutation_p.R547S|EMR1_ENST00000450315.3_Missense_Mutation_p.R370S|EMR1_ENST00000381407.5_Missense_Mutation_p.R406S|EMR1_ENST00000381404.4_Missense_Mutation_p.R495S	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	547	GPS.|Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AGTTTGAGAGGCCCATCTGTG	0.428000													27	36					7.92952e-12	1.14786e-11	0.021523	1	0
RBP7	116362	broad.mit.edu	37	1	10068244	10068244	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:10068244G>A	ENST00000294435.7	+	3	309	c.266G>A	c.(265-267)tGg>tAg	p.W89*		NM_052960.2	NP_443192.1	Q96R05	RET7_HUMAN	retinol binding protein 7, cellular	89						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(1)	2		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|BRCA - Breast invasive adenocarcinoma(304;0.000302)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00856)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TTGGTTATCTGGGACAATGAC	0.468000													3	18					0	0	0.004672	0	0
TMC4	147798	broad.mit.edu	37	19	54664217	54664217	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr19:54664217C>G	ENST00000376591.4	-	14	2188	c.2057G>C	c.(2056-2058)cGt>cCt	p.R686P	TMC4_ENST00000416963.1_Missense_Mutation_p.R268P|TMC4_ENST00000301187.4_Missense_Mutation_p.R680P	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	686						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTGTCTCtgacgtttgagctc	0.587000													3	35					0	0	0.004672	0	0
PARVB	29780	broad.mit.edu	37	22	44527484	44527484	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr22:44527484G>C	ENST00000338758.6	+	5	557	c.494G>C	c.(493-495)tGg>tCg	p.W165S	PARVB_ENST00000404989.1_Missense_Mutation_p.W128S|PARVB_ENST00000406477.3_Missense_Mutation_p.W198S	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	165	CH 1.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				CCCCGAGGCTGGGCGCTCCGG	0.597000													13	24					0	0	0.020292	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813565	106813565	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:106813565G>T	ENST00000407775.2	+	8	1505	c.1255G>T	c.(1255-1257)Gaa>Taa	p.E419*	ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.E287*|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.E150*|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.E287*|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	419					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GACCAGAAGCGAACTTCCCCA	0.498000													15	102					1.62849e-17	2.56979e-17	0.028581	1	0
SPATA16	83893	broad.mit.edu	37	3	172834930	172834930	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:172834930G>T	ENST00000351008.3	-	2	775	c.592C>A	c.(592-594)Cag>Aag	p.Q198K		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	198					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GTTCTGAACTGTCCTGCTGCC	0.418000													28	64					4.59853e-10	6.43615e-10	0.027356	1	0
UGT2A2	574537	broad.mit.edu	37	4	70505157	70505157	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:70505157G>T	ENST00000457664.2	-	1	201	c.202C>A	c.(202-204)Cta>Ata	p.L68I	UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000514019.1_Missense_Mutation_p.L269I|UGT2A1_ENST00000286604.4_Intron	NM_001105677.2	NP_001099147.2																					TTGATGAATAGAGTTGCTGAT	0.353000													21	157					1.22574e-08	1.64809e-08	0.014323	1	0
PZP	5858	broad.mit.edu	37	12	9311070	9311070	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:9311070C>A	ENST00000261336.2	-	26	3268	c.3240G>T	c.(3238-3240)caG>caT	p.Q1080H	PZP_ENST00000381997.2_Missense_Mutation_p.Q866H	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CATTGTCCTTCTGCATCTGGG	0.473000													60	75					1.53134e-21	2.51028e-21	0.014410	1	0
EPHA4	2043	broad.mit.edu	37	2	222290781	222290781	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:222290781C>T	ENST00000281821.2	-	17	2969	c.2928G>A	c.(2926-2928)atG>atA	p.M976I	EPHA4_ENST00000392071.4_Missense_Mutation_p.M925I|EPHA4_ENST00000409938.1_Missense_Mutation_p.M976I|EPHA4_ENST00000409854.1_3'UTR	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	976						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GCATCTGCTGCATTTGGGTTC	0.448000													6	223					0	0	0.001984	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47634062	47634062	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr20:47634062A>T	ENST00000371917.4	+	33	4484	c.4484A>T	c.(4483-4485)gAg>gTg	p.E1495V		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1495					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GTAGGAATGGAGGAAGATTCA	0.338000													25	51					0	0	0.007291	0	0
DCHS2	54798	broad.mit.edu	37	4	155237050	155237050	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:155237050G>C	ENST00000357232.3	-	15	3744	c.3745C>G	c.(3745-3747)Ctt>Gtt	p.L1249V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1249	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GATGAAGAAAGTGCTGGTGTG	0.408000													22	22					0	0	0.014323	0	0
NFATC4	4776	broad.mit.edu	37	14	24846005	24846005	+	Silent	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:24846005G>A	ENST00000413692.2	+	10	2895	c.2751G>A	c.(2749-2751)ccG>ccA	p.P917P	NFATC4_ENST00000555590.1_Silent_p.P867P|NFATC4_ENST00000250373.4_Silent_p.P854P|NFATC4_ENST00000555453.1_Silent_p.P842P|NFATC4_ENST00000422617.3_Silent_p.P842P|NFATC4_ENST00000555393.1_Silent_p.P142P|NFATC4_ENST00000555167.1_Silent_p.P389P|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000424781.2_Silent_p.P867P|NFATC4_ENST00000553708.1_Silent_p.P854P|NFATC4_ENST00000539237.2_Silent_p.P886P|NFATC4_ENST00000553879.1_Silent_p.P784P|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000557451.1_Silent_p.P784P|NFATC4_ENST00000556759.1_Silent_p.P389P|NFATC4_ENST00000554344.1_Silent_p.P784P|NFATC4_ENST00000554661.1_Intron|NFATC4_ENST00000556279.1_Silent_p.P886P|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000555802.1_Silent_p.P142P|NFATC4_ENST00000554050.1_Intron	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	854					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		AGGGGGCTCCGGAGCAGGAGA	0.622000													6	26					0	0	0.003080	0	0
NFIX	4784	broad.mit.edu	37	19	13201202	13201202	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr19:13201202C>G	ENST00000358552.3	+	8	1366	c.1366C>G	c.(1366-1368)Cag>Gag	p.Q456E	NFIX_ENST00000592199.1_Missense_Mutation_p.Q498E|NFIX_ENST00000585575.1_Missense_Mutation_p.Q490E|NFIX_ENST00000587260.1_3'UTR|NFIX_ENST00000587760.1_3'UTR|NFIX_ENST00000360105.4_3'UTR|NFIX_ENST00000588228.1_Missense_Mutation_p.Q451E|NFIX_ENST00000397661.2_3'UTR			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	498					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			ACAGCAGTCTCAGGTAGGAGA	0.622000													7	24					0	0	0.001984	0	0
TBC1D32	221322	broad.mit.edu	37	6	121615756	121615756	+	Silent	SNP	A	A	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:121615756A>G	ENST00000275159.6	-	11	1190	c.1191T>C	c.(1189-1191)acT>acC	p.T397T	TBC1D32_ENST00000398212.2_Silent_p.T397T					TBC1 domain family, member 32																		CAGCTTTCCTAGTCTTACACA	0.318000													45	114					0	0	0.014410	0	0
UGT2A2	574537	broad.mit.edu	37	4	70505158	70505158	+	Silent	SNP	A	A	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:70505158A>G	ENST00000457664.2	-	1	200	c.201T>C	c.(199-201)acT>acC	p.T67T	UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000514019.1_Silent_p.T268T|UGT2A1_ENST00000286604.4_Intron	NM_001105677.2	NP_001099147.2																					TGATGAATAGAGTTGCTGATG	0.353000													23	155					0	0	0.018920	0	0
SYT14	255928	broad.mit.edu	37	1	210194461	210194461	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:210194461G>T	ENST00000537238.1	+	5	581	c.190G>T	c.(190-192)Gcc>Tcc	p.A64S	SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000399639.2_Missense_Mutation_p.A102S|SYT14_ENST00000367015.1_Missense_Mutation_p.A64S|SYT14_ENST00000422431.1_Missense_Mutation_p.A147S|SYT14_ENST00000367019.1_Missense_Mutation_p.A102S|SYT14_ENST00000472886.1_Missense_Mutation_p.A102S|SYT14_ENST00000534859.1_Missense_Mutation_p.A102S	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	102						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		ATATCATGAGGCCTTATCCAG	0.423000													30	66					2.65835e-16	4.12245e-16	0.007291	1	0
XIRP2	129446	broad.mit.edu	37	2	168101434	168101434	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:168101434C>A	ENST00000409195.1	+	9	3621	c.3532C>A	c.(3532-3534)Caa>Aaa	p.Q1178K	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q956K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q1178K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1003					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGACAGCATACAAGGAGAAGA	0.388000													13	76					7.03913e-09	9.51807e-09	0.013537	1	0
LRP1B	53353	broad.mit.edu	37	2	141607711	141607711	+	Silent	SNP	A	A	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:141607711A>T	ENST00000389484.3	-	29	5870	c.4899T>A	c.(4897-4899)gcT>gcA	p.A1633A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1633					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGTTAATAAAAGCTCGTTTAA	0.328000										TSP Lung(27;0.18)			10	69					0	0	0.010729	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656449	40656449	+	Silent	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:40656449T>A	ENST00000406785.1	-	2	1161	c.972A>T	c.(970-972)cgA>cgT	p.R324R	SLC8A1_ENST00000542756.1_Silent_p.R324R|SLC8A1_ENST00000403092.1_Silent_p.R324R|SLC8A1_ENST00000406391.2_Silent_p.R324R|SLC8A1_ENST00000405901.3_Silent_p.R324R|SLC8A1_ENST00000402441.1_Silent_p.R324R|SLC8A1_ENST00000405269.1_Silent_p.R324R|SLC8A1_ENST00000332839.4_Silent_p.R324R|SLC8A1_ENST00000542024.1_Silent_p.R324R|SLC8A1_ENST00000408028.2_Silent_p.R324R			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	324					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TAGCCATTTCTCGCCTAGCTT	0.423000													5	90					0	0	0.014758	0	0
C1orf94	84970	broad.mit.edu	37	1	34667708	34667708	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:34667708G>T	ENST00000488417.1	+	4	1414	c.1294G>T	c.(1294-1296)Gac>Tac	p.D432Y	C1orf94_ENST00000373374.3_Missense_Mutation_p.D242Y	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	242							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GACGGTTGCTGACAAGAACAA	0.537000													24	115					4.16121e-05	4.86604e-05	0.016522	1	0
ZNF366	167465	broad.mit.edu	37	5	71756208	71756208	+	Silent	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:71756208G>A	ENST00000318442.5	-	2	1606	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGGGGAAGTCGAGGCCGCACT	0.657000													3	26					0	0	0.004672	0	0
ATAD2	29028	broad.mit.edu	37	8	124371495	124371495	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:124371495C>T	ENST00000287394.5	-	11	1455	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TCAAAGACTTCTGGATAAAGT	0.328000													13	111					0	0	0.013537	0	0
VCAM1	7412	broad.mit.edu	37	1	101194690	101194690	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:101194690C>A	ENST00000294728.2	+	5	1057	c.956C>A	c.(955-957)cCt>cAt	p.P319H	VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370119.4_Missense_Mutation_p.P257H	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	319	Ig-like C2-type 4.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GAGATCTCCCCTGGACCCCGG	0.438000													14	66					2.31682e-05	2.77246e-05	0.024245	1	0
IGDCC3	9543	broad.mit.edu	37	15	65667452	65667452	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr15:65667452G>T	ENST00000327987.4	-	2	643	c.392C>A	c.(391-393)gCt>gAt	p.A131D		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	131	Ig-like C2-type 1.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTGGATGCGAGCCTTCCGGCT	0.587000													3	27					6.4e-05	7.42522e-05	0.004672	1	0
KRT71	112802	broad.mit.edu	37	12	52946657	52946657	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:52946657A>G	ENST00000267119.5	-	1	274	c.205T>C	c.(205-207)Tat>Cat	p.Y69H		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	69	Gly-rich.|Head.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CCAAATCCATAGCCTCCACTC	0.647000													6	54					0	0	0.001984	0	0
ZNF362	149076	broad.mit.edu	37	1	33760819	33760819	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:33760819C>T	ENST00000539719.1	+	8	1229	c.1059C>T	c.(1057-1059)tcC>tcT	p.S353S	ZNF362_ENST00000373428.5_Silent_p.S353S	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ATTCGGACTCCGCTTCTTTGC	0.622000											OREG0013342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	35					0	0	0.003080	0	0
DCHS2	54798	broad.mit.edu	37	4	155219121	155219121	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:155219121C>A	ENST00000357232.3	-	18	4979	c.4980G>T	c.(4978-4980)caG>caT	p.Q1660H		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1660	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTGGAATGCCCTGGTCTGTAA	0.423000													11	59					3.86212e-05	4.52366e-05	0.008291	1	0
ADGRG6	57211	broad.mit.edu	37	6	142741054	142741054	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:142741054G>T	ENST00000230173.6	+	22	3608	c.3132G>T	c.(3130-3132)atG>atT	p.M1044I	GPR126_ENST00000367608.2_Missense_Mutation_p.M1016I|GPR126_ENST00000296932.8_Missense_Mutation_p.M1016I|GPR126_ENST00000367609.3_Missense_Mutation_p.M1044I	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	1044					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TTGTGGTAATGGTGCAGATCT	0.448000													65	124					1.02487e-32	1.73551e-32	0.014410	1	0
MEST	4232	broad.mit.edu	37	7	130137840	130137840	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:130137840T>A	ENST00000223215.4	+	4	546	c.325T>A	c.(325-327)Ttc>Atc	p.F109I	MEST_ENST00000341441.4_Missense_Mutation_p.F100I|MEST_ENST00000437945.1_Missense_Mutation_p.F109I|MEST_ENST00000393187.1_Missense_Mutation_p.F100I|MEST_ENST00000378576.4_Missense_Mutation_p.F100I|MEST_ENST00000416162.2_Missense_Mutation_p.F100I|MEST_ENST00000462132.1_3'UTR|hsa-mir-335_ENST00000604666.1_RNA	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	109					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					AGGCTTTGGCTTCAGTGACAA	0.527000													5	175					0	0	0.021553	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857834	9857834	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr16:9857834C>G	ENST00000396573.2	-	14	3876	c.3567G>C	c.(3565-3567)aaG>aaC	p.K1189N	GRIN2A_ENST00000404927.2_Missense_Mutation_p.K1189N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K1189N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K1032N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K1189N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K1189N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1189					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGGTGAAGTGCTTGGAGTAGA	0.537000													111	236					0	0	0.014410	0	0
HKDC1	80201	broad.mit.edu	37	10	70998835	70998835	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr10:70998835G>T	ENST00000354624.5	+	5	666	c.533G>T	c.(532-534)cGa>cTa	p.R178L	HKDC1_ENST00000395086.2_Missense_Mutation_p.R178L	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	178					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TTTAAGGCACGAGGAGTTCAG	0.522000													8	12					0.000274275	0.000307702	0.004482	1	0
KAT6A	7994	broad.mit.edu	37	8	41790452	41790452	+	Silent	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:41790452G>A	ENST00000396930.3	-	18	5829	c.5286C>T	c.(5284-5286)acC>acT	p.T1762T	KAT6A_ENST00000406337.1_Silent_p.T1762T|KAT6A_ENST00000265713.2_Silent_p.T1762T	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1762					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GGTCCATAATGGTGTTGGTCA	0.517000													74	203					0	0	0.014410	0	0
ABCA13	154664	broad.mit.edu	37	7	48356826	48356826	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:48356826A>C	ENST00000435803.1	+	27	9956	c.9932A>C	c.(9931-9933)aAa>aCa	p.K3311T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3311					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACCTTCCTAAAACCCATATTG	0.338000													10	82					0	0	0.006214	0	0
AMER2	219287	broad.mit.edu	37	13	25744599	25744599	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr13:25744599C>G	ENST00000357816.2	-	3	1277	c.802G>C	c.(802-804)Gac>Cac	p.D268H	AMER2_ENST00000515384.1_Missense_Mutation_p.D387H|AMER2_ENST00000381853.3_Missense_Mutation_p.D268H					APC membrane recruitment protein 2																		TCCTCTTGGTCTGCAATAATA	0.532000													15	26					0	0	0.004990	0	0
BNC1	646	broad.mit.edu	37	15	83933374	83933374	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr15:83933374C>T	ENST00000345382.2	-	4	714	c.629G>A	c.(628-630)aGc>aAc	p.S210N	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.S203N	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	210					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GTGACTGCAGCTCTCGATGAA	0.448000													19	71					0	0	0.010504	0	0
TRBC2	28638	broad.mit.edu	37	7	142498860	142498860	+	RNA	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:142498860G>A	ENST00000466254.1	+	0	136																											CTGAGCTGGTGGGTGAATGGG	0.617000													12	170					0	0	0.020292	0	0
TIE1	7075	broad.mit.edu	37	1	43772922	43772922	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:43772922C>T	ENST00000372476.3	+	5	829	c.750C>T	c.(748-750)ttC>ttT	p.F250F	TIE1_ENST00000441333.2_Silent_p.F250F|TIE1_ENST00000433781.2_5'UTR|TIE1_ENST00000538015.1_Silent_p.F250F	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	250	EGF-like 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCCTGGCTTCACTGGCACCC	0.627000													11	52					0	0	0.008291	0	0
SORL1	6653	broad.mit.edu	37	11	121360805	121360805	+	Silent	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:121360805C>G	ENST00000260197.7	+	5	873	c.744C>G	c.(742-744)gtC>gtG	p.V248V	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	248					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGGAACATGTCAAGTCCTTTT	0.438000													9	38					0	0	0.004482	0	0
PAX6	5080	broad.mit.edu	37	11	31823443	31823443	+	Silent	SNP	T	T	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:31823443T>C	ENST00000419022.1	-	6	627	c.159A>G	c.(157-159)aaA>aaG	p.K53K	PAX6_ENST00000379129.2_Silent_p.K53K|PAX6_ENST00000379115.4_Silent_p.K53K|PAX6_ENST00000379132.3_Intron|PAX6_ENST00000379123.5_Intron|PAX6_ENST00000379111.2_Intron|PAX6_ENST00000379107.2_Silent_p.K53K|PAX6_ENST00000241001.8_Intron|PAX6_ENST00000533156.1_5'UTR	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	47	Paired.		V -> D (in PAN; also found in patients with congenital cataract and foveal hypoplasia).|V -> L (in AN; mild; shows 50% lower DNA- binding and transactivation ability than the wild-type protein).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GCACTTGGACTTTTGCATCTG	0.303000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				3	21					0	0	0.009096	0	0
CMYA5	202333	broad.mit.edu	37	5	79028950	79028950	+	Silent	SNP	A	A	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:79028950A>T	ENST00000446378.2	+	2	4393	c.4362A>T	c.(4360-4362)atA>atT	p.I1454I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1454						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCTCCTCTATAGCAGAGCATT	0.383000													12	46					0	0	0.016723	0	0
DIP2C	22982	broad.mit.edu	37	10	327243	327243	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr10:327243C>A	ENST00000280886.6	-	36	4402	c.4315G>T	c.(4315-4317)Gtg>Ttg	p.V1439L		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1439						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCCCCTACCACGTAGAGGGCA	0.522000													5	21					3.59834e-05	4.22849e-05	0.021553	1	0
PRAMENP	649179	broad.mit.edu	37	22	22380800	22380800	+	RNA	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr22:22380800G>A	ENST00000337471.4	-	0	253																											TCCCAAAACTGTGATGTTTGG	0.537000													19	31					0	0	0.006122	0	0
MERTK	10461	broad.mit.edu	37	2	112740432	112740432	+	Silent	SNP	A	A	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:112740432A>T	ENST00000295408.4	+	8	1415	c.1158A>T	c.(1156-1158)gcA>gcT	p.A386A	MERTK_ENST00000409780.1_Silent_p.A210A|MERTK_ENST00000421804.2_Silent_p.A386A			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	386	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CATCAGTAGCACCTTTAAATG	0.423000													7	65					0	0	0.001984	0	0
LINC01410	103352539	broad.mit.edu	37	9	66459862	66459862	+	RNA	SNP	T	T	C	rs142101130	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr9:66459862T>C	ENST00000424345.1	+	0	122																											ttttcctggatggtgttgatg	0.363000													3	35					0	0	0.021553	0	0
TTC21B	79809	broad.mit.edu	37	2	166799852	166799852	+	Splice_Site	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:166799852C>G	ENST00000243344.7	-	5	567		c.e5-1		AC010127.5_ENST00000443032.1_RNA|AC010127.5_ENST00000440322.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B							cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						AAACGTGTCCCTGTAAAATGA	0.313000													3	27					0	0	0.004672	0	0
ALKBH5	54890	broad.mit.edu	37	17	18111563	18111563	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:18111563G>C	ENST00000399138.4	+	4	1043	c.1038G>C	c.(1036-1038)gaG>gaC	p.E346D	ALKBH5_ENST00000541285.1_Missense_Mutation_p.E5D	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5 (E. coli)	346						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					ACAAGGAAGAGAACCGGCGCT	0.602000													15	43					0	0	0.028581	0	0
ZNF577	84765	broad.mit.edu	37	19	52381733	52381733	+	Silent	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr19:52381733G>A	ENST00000420592.1	-	4	1429	c.96C>T	c.(94-96)ttC>ttT	p.F32F	ZNF577_ENST00000485702.1_5'UTR|ZNF577_ENST00000412216.1_Silent_p.F32F|ZNF577_ENST00000301399.5_Silent_p.F32F|ZNF577_ENST00000451628.2_Silent_p.F32F			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CCTCCCTGGTGAAGCCCACAG	0.448000													29	76					0	0	0.013726	0	0
ETV5	2119	broad.mit.edu	37	3	185783743	185783743	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:185783743G>C	ENST00000306376.5	-	8	1015	c.769C>G	c.(769-771)Ccg>Gcg	p.P257A	ETV5_ENST00000537818.1_Missense_Mutation_p.P299A|ETV5_ENST00000434744.1_Missense_Mutation_p.P257A	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	257					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			TGAGGGGGCGGGGGAGCTGCA	0.582000			T	"""TMPRSS2, SCL45A3"""	Prostate								8	51					0	0	0.003080	0	0
CXorf21	80231	broad.mit.edu	37	X	30577880	30577880	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chrX:30577880C>A	ENST00000378962.3	-	3	915	c.593G>T	c.(592-594)aGc>aTc	p.S198I		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	198										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						CATTTGCAAGCTGCTTTTCTC	0.413000													18	26					3.52763e-06	4.35196e-06	0.004990	1	0
ATOH1	474	broad.mit.edu	37	4	94750176	94750176	+	Silent	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:94750176G>A	ENST00000306011.3	+	1	135	c.99G>A	c.(97-99)ccG>ccA	p.P33P		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	33	Poly-Pro.				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		AACCGCCGCCGCCGCCGCAGC	0.667000													11	5					0	0	0.016723	0	0
RNF168	165918	broad.mit.edu	37	3	196198808	196198808	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:196198808C>T	ENST00000318037.3	-	6	2192	c.1598G>A	c.(1597-1599)aGa>aAa	p.R533K		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	533					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CATCTTTCTTCTATTAACTGA	0.398000													40	78					0	0	0.021022	0	0
CLCA3P	9629	broad.mit.edu	37	1	87099957	87099957	+	RNA	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:87099957G>C	ENST00000456587.1	-	0	294																											ATTTCCAAAAGGTTTGTTTAA	0.328000													6	67					0	0	0.021553	0	0
GPR174	84636	broad.mit.edu	37	X	78426508	78426508	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chrX:78426508C>G	ENST00000276077.1	+	1	40	c.4C>G	c.(4-6)Cct>Gct	p.P2A		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	2						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						GAGAATCATGCCTGCTAATTA	0.398000										HNSCC(63;0.18)			11	21					0	0	0.013537	0	0
PXN	5829	broad.mit.edu	37	12	120650328	120650328	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:120650328T>C	ENST00000397506.3	-	9	2054	c.1001A>G	c.(1000-1002)tAc>tGc	p.Y334C	PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000536957.1_Missense_Mutation_p.Y520C|PXN-AS1_ENST00000535200.1_RNA|PXN_ENST00000458477.2_Missense_Mutation_p.Y355C|PXN_ENST00000424649.2_Missense_Mutation_p.Y488C|PXN_ENST00000267257.7_Missense_Mutation_p.Y536C|PXN_ENST00000228307.7_Missense_Mutation_p.Y522C			P49023	PAXI_HUMAN	paxillin	522					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CACCTCACAGTAGGGCTGCCC	0.652000													5	9					0	0	0.021553	0	0
MKRN3	7681	broad.mit.edu	37	15	23811059	23811059	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr15:23811059C>G	ENST00000314520.3	+	1	606	c.130C>G	c.(130-132)Cca>Gca	p.P44A	MKRN3_ENST00000564592.1_Missense_Mutation_p.P44A|MKRN3_ENST00000568252.1_Missense_Mutation_p.P44A	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	44						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		ATCTGCTGCTCCAGATTCAGC	0.701000													5	12					0	0	0.014758	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21392039	21392039	+	Silent	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:21392039C>A	ENST00000256958.2	+	15	2088	c.1992C>A	c.(1990-1992)gtC>gtA	p.V664V		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	664					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ATGGAAGTGTCATGGATGAAG	0.313000													11	36					4.68919e-08	6.18904e-08	0.008291	1	0
PCDHA11	56138	broad.mit.edu	37	5	140249785	140249785	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:140249785C>A	ENST00000398640.2	+	1	1097	c.1097C>A	c.(1096-1098)aCg>aAg	p.T366K	PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCCCAGCACGGTCATTGCC	0.582000													11	27					7.03913e-09	9.51807e-09	0.013537	1	0
PRR16	51334	broad.mit.edu	37	5	120021732	120021732	+	Silent	SNP	T	T	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:120021732T>C	ENST00000379551.2	+	3	531	c.174T>C	c.(172-174)aaT>aaC	p.N58N	PRR16_ENST00000446965.1_Silent_p.N11N|PRR16_ENST00000407149.2_Silent_p.N81N|PRR16_ENST00000505123.1_Silent_p.N11N	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	81										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		ACACGCTGAATAGTAGCTCAA	0.517000													37	118					0	0	0.017118	0	0
LY9	4063	broad.mit.edu	37	1	160786463	160786463	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:160786463C>T	ENST00000263285.5	+	5	1182	c.1152C>T	c.(1150-1152)tcC>tcT	p.S384S	LY9_ENST00000368035.1_Silent_p.S36S|LY9_ENST00000368041.2_Intron|LY9_ENST00000368040.1_Silent_p.S36S|LY9_ENST00000341032.4_Intron	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	384	Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGACCTGCTCCGTGGAGGACG	0.567000													10	47					0	0	0.008291	0	0
C3orf20	84077	broad.mit.edu	37	3	14756870	14756870	+	Nonsense_Mutation	SNP	G	G	A	rs151168843		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:14756870G>A	ENST00000253697.3	+	9	1840	c.1388G>A	c.(1387-1389)tGg>tAg	p.W463*	C3orf20_ENST00000435614.1_Nonsense_Mutation_p.W341*|C3orf20_ENST00000412910.1_Nonsense_Mutation_p.W341*|C3orf20_ENST00000495387.1_3'UTR	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	463						cytoplasm|integral to membrane		p.W463*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GTCCACAAGTGGAGCTGGACT	0.537000													3	21					0	0	0.004672	0	0
CNTN5	53942	broad.mit.edu	37	11	100061967	100061967	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:100061967G>T	ENST00000524871.1	+	14	1980	c.1690G>T	c.(1690-1692)Gct>Tct	p.A564S	CNTN5_ENST00000528682.1_Missense_Mutation_p.A564S|CNTN5_ENST00000279463.3_Missense_Mutation_p.A564S|CNTN5_ENST00000418526.2_Missense_Mutation_p.A490S|CNTN5_ENST00000527185.1_Missense_Mutation_p.A564S|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	564	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGAAATTATAGCTTCGCTATC	0.398000													9	46					1.76689e-08	2.35805e-08	0.006214	1	0
OR56B4	196335	broad.mit.edu	37	11	6129676	6129676	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:6129676C>T	ENST00000316529.3	+	1	763	c.668C>T	c.(667-669)tCc>tTc	p.S223F	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S223F(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTATTTTCTTCCTATGCTGTA	0.473000													52	91					0	0	0.014410	0	0
ACTG1	71	broad.mit.edu	37	17	79478070	79478070	+	Silent	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:79478070G>T	ENST00000575842.1	-	4	1293	c.867C>A	c.(865-867)atC>atA	p.I289I	ACTG1_ENST00000331925.2_Silent_p.I289I|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000573283.1_Silent_p.I289I|ACTG1_ENST00000575087.1_Silent_p.I289I			P63261	ACTG_HUMAN	actin, gamma 1	289					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GGTCTTTGCGGATGTCCACGT	0.592000													5	10					8.12818e-05	9.35262e-05	0.001984	1	0
LAMA1	284217	broad.mit.edu	37	18	7016521	7016521	+	Silent	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr18:7016521G>A	ENST00000389658.3	-	21	3051	c.2958C>T	c.(2956-2958)ggC>ggT	p.G986G		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	986	Laminin EGF-like 10.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGCGTAGAAGCCATGGGCAC	0.557000													15	51					0	0	0.020292	0	0
TBX3	6926	broad.mit.edu	37	12	115120979	115120979	+	Silent	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:115120979G>A	ENST00000349155.2	-	1	990	c.27C>T	c.(25-27)gtC>gtT	p.V9V	TBX3_ENST00000257566.3_Silent_p.V9V	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	9					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TCCCAGGAATGACCGGATCTC	0.622000											OREG0022153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	51					0	0	0.004990	0	0
MYEOV2	150678	broad.mit.edu	37	2	241069409	241069409	+	Silent	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:241069409G>A	ENST00000307266.3	-	4	299	c.300C>T	c.(298-300)tcC>tcT	p.S100S		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		CGGGAACCATGGAGGACTGCT	0.607000													4	16					0	0	0.009096	0	0
CEACAM20	125931	broad.mit.edu	37	19	45033480	45033480	+	RNA	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr19:45033480C>T	ENST00000454753.1	-	0	331							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AGGGCACTCACCTGAAAGCAG	0.592000													15	30					0	0	0.004990	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725094	140725094	+	Silent	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:140725094G>T	ENST00000253812.6	+	1	1494	c.1494G>T	c.(1492-1494)ggG>ggT	p.G498G	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCCAGGGGGCGCCCCTGT	0.547000													23	67					7.41877e-09	1.00126e-08	0.012319	1	0
DNAH14	127602	broad.mit.edu	37	1	225152201	225152201	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:225152201A>G	ENST00000430092.1	+	5	603	c.388A>G	c.(388-390)Ata>Gta	p.I130V	DNAH14_ENST00000366848.1_Missense_Mutation_p.I130V|DNAH14_ENST00000366849.1_Missense_Mutation_p.I130V|DNAH14_ENST00000366850.3_Missense_Mutation_p.I130V|DNAH14_ENST00000400952.3_Missense_Mutation_p.I130V|DNAH14_ENST00000439375.2_Missense_Mutation_p.I130V	NM_001373.1	NP_001364.1	Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	257					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TGATGATGTGATAAGAAATAT	0.328000													12	66					0	0	0.016723	0	0
FGF14	2259	broad.mit.edu	37	13	103053862	103053862	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr13:103053862C>A	ENST00000376131.4	-	1	262	c.167G>T	c.(166-168)tGt>tTt	p.C56F	RP11-811P12.3_ENST00000418923.2_RNA	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	0					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCCACAAAGACACTGCAGCAT	0.413000													32	40					3.62531e-18	5.75878e-18	0.019004	1	0
FNIP1	96459	broad.mit.edu	37	5	131042107	131042107	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:131042107C>A	ENST00000307968.7	-	8	826	c.827G>T	c.(826-828)aGa>aTa	p.R276I	FNIP1_ENST00000510461.1_Missense_Mutation_p.R304I|FNIP1_ENST00000307954.8_Missense_Mutation_p.R259I|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000511848.1_Missense_Mutation_p.R304I	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1									p.R304I(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		AACTTACCATCTAGGAAATAC	0.418000													13	40					7.93312e-07	1.00281e-06	0.020292	1	0
ACTL7B	10880	broad.mit.edu	37	9	111617731	111617731	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr9:111617731C>T	ENST00000374667.3	-	1	1508	c.480G>A	c.(478-480)cgG>cgA	p.R160R		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	160						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CGTACTTCTCCCGGTTGCTGC	0.612000													3	13					0	0	0.004672	0	0
FFAR1	2864	broad.mit.edu	37	19	35842790	35842790	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr19:35842790G>T	ENST00000246553.2	+	1	346	c.336G>T	c.(334-336)ttG>ttT	p.L112F		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	112					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	CCTTCCCCTTGGGCTACCAAG	0.682000													34	12					4.62619e-21	7.5663e-21	0.019004	1	0
PCDH18	54510	broad.mit.edu	37	4	138453011	138453011	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:138453011C>A	ENST00000344876.4	-	1	618	c.232G>T	c.(232-234)Gta>Tta	p.V78L	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.V78L	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	78	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V78L(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCGTTTACTACAAGTAGAGGA	0.423000													5	148					0.00116845	0.00127693	0.021553	1	0
ADCY5	111	broad.mit.edu	37	3	123003542	123003542	+	Nonsense_Mutation	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:123003542G>C	ENST00000462833.1	-	21	4911	c.3699C>G	c.(3697-3699)taC>taG	p.Y1233*	ADCY5_ENST00000309879.5_Nonsense_Mutation_p.Y883*|ADCY5_ENST00000491190.1_Nonsense_Mutation_p.Y891*	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1233					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		ACTCCAGCTGGTACGTGTTGG	0.602000													19	79					0	0	0.008871	0	0
MARC2	54996	broad.mit.edu	37	1	220928449	220928449	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:220928449C>G	ENST00000366913.3	+	2	631	c.433C>G	c.(433-435)Ctc>Gtc	p.L145V	MARC2_ENST00000359316.2_Missense_Mutation_p.L145V	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN	mitochondrial amidoxime reducing component 2	145						mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										CTCAAACAAACTCCACAACTG	0.498000													6	63					0	0	0.001984	0	0
TSPAN13	27075	broad.mit.edu	37	7	16823093	16823093	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:16823093G>A	ENST00000262067.4	+	6	1025	c.592G>A	c.(592-594)Gcg>Acg	p.A198T		NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	198						integral to plasma membrane|membrane fraction				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		AGACCCCCGCGCGAATCCTAG	0.383000													5	185					0	0	0.014758	0	0
BNC2	54796	broad.mit.edu	37	9	16436469	16436469	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr9:16436469T>G	ENST00000380672.4	-	6	1780	c.1723A>C	c.(1723-1725)Agt>Cgt	p.S575R	BNC2_ENST00000545497.1_Missense_Mutation_p.S480R|BNC2_ENST00000380666.2_Missense_Mutation_p.S575R|BNC2_ENST00000380667.2_Missense_Mutation_p.S508R	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	575	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTGAGTAAACTTCTATAAAAT	0.517000													15	38					0	0	0.020292	0	0
GPR158	57512	broad.mit.edu	37	10	25755589	25755589	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr10:25755589G>A	ENST00000376351.3	+	5	1704	c.1345G>A	c.(1345-1347)Gca>Aca	p.A449T		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	449						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAGCATCCGGGCATCGGGCCT	0.358000													12	55					0	0	0.010729	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123471181	123471181	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:123471181C>T	ENST00000529750.1	+	7	873	c.546C>T	c.(544-546)ttC>ttT	p.F182F	GRAMD1B_ENST00000456860.2_Silent_p.F189F|GRAMD1B_ENST00000322282.7_Silent_p.F182F	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	182						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TCTAGCACTTCTTCACTTCGT	0.398000													4	20					0	0	0.009096	0	0
LIPI	149998	broad.mit.edu	37	21	15561448	15561448	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr21:15561448C>A	ENST00000344577.2	-	2	427	c.402G>T	c.(400-402)tgG>tgT	p.W134C	LIPI_ENST00000536861.1_Missense_Mutation_p.W113C	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	113					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CACCCCGGCTCCAGTCTACTA	0.383000													6	26					3.59834e-05	4.22849e-05	0.021553	1	0
COLGALT2	23127	broad.mit.edu	37	1	183942810	183942810	+	Silent	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:183942810C>A	ENST00000361927.4	-	4	938	c.567G>T	c.(565-567)gtG>gtT	p.V189V	COLGALT2_ENST00000546159.1_Silent_p.V189V	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		GCATGGGGGCCACAATAGTTT	0.403000													13	124					2.68362e-12	3.9084e-12	0.013537	1	0
CRISP1	167	broad.mit.edu	37	6	49825116	49825116	+	Splice_Site	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:49825116C>A	ENST00000335847.4	-	2	100		c.e2-1		CRISP1_ENST00000505118.1_Splice_Site|CRISP1_ENST00000536021.1_Splice_Site|CRISP1_ENST00000355791.2_5'UTR|CRISP1_ENST00000507853.1_Splice_Site|CRISP1_ENST00000329411.5_5'UTR	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1						fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					ATTTCCATCCCTGAAAGAAAA	0.318000													6	46					0.0215528	0.0226241	0.021553	1	0
CLCN1	1180	broad.mit.edu	37	7	143039110	143039110	+	Silent	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:143039110G>A	ENST00000343257.2	+	15	1758	c.1671G>A	c.(1669-1671)ctG>ctA	p.L557L		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	557					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTCACATCCTGCCCATGATGG	0.537000													11	37					0	0	0.008291	0	0
OR4K1	79544	broad.mit.edu	37	14	20404030	20404030	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:20404030A>G	ENST00000285600.4	+	1	264	c.205A>G	c.(205-207)Att>Gtt	p.I69V		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TCTTTCTTTCATTGATATCTG	0.388000													17	223					0	0	0.008871	0	0
FOLH1	2346	broad.mit.edu	37	11	49175882	49175882	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:49175882C>G	ENST00000340334.7	-	17	2109	c.1741G>C	c.(1741-1743)Gat>Cat	p.D581H	FOLH1_ENST00000533034.1_Missense_Mutation_p.D581H|FOLH1_ENST00000356696.3_Missense_Mutation_p.D596H|FOLH1_ENST00000343844.4_Missense_Mutation_p.D288H|FOLH1_ENST00000256999.2_Missense_Mutation_p.D596H	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	596	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TCTCGACAATCAAAAGGGAGC	0.383000													7	50					0	0	0.013537	0	0
TENM4	26011	broad.mit.edu	37	11	78413266	78413266	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:78413266G>C	ENST00000278550.7	-	28	4854	c.4392C>G	c.(4390-4392)caC>caG	p.H1464Q		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CCAGGGTTGCGTGGATGGCCA	0.547000													21	24					0	0	0.010504	0	0
USH2A	7399	broad.mit.edu	37	1	216260067	216260067	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:216260067C>A	ENST00000366943.2	-	24	5367	c.4981G>T	c.(4981-4983)Gat>Tat	p.D1661Y	RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.D1661Y|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1661	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.D1661Y(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCACCAGGATCCTTCCTGAGG	0.383000										HNSCC(13;0.011)			4	97					0.000602214	0.0006683	0.014758	1	0
SPEF2	79925	broad.mit.edu	37	5	35806992	35806992	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:35806992A>T	ENST00000440995.2	+	35	5179	c.5179A>T	c.(5179-5181)Agt>Tgt	p.S1727C	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Missense_Mutation_p.S529C|SPEF2_ENST00000356031.3_Missense_Mutation_p.S1732C			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1732					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAAGGGGGAAGTGAAGCACA	0.398000													58	49					0	0	0.014410	0	0
NLRP3	114548	broad.mit.edu	37	1	247587726	247587726	+	Silent	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:247587726G>T	ENST00000366497.2	+	4	1761	c.981G>T	c.(979-981)cgG>cgT	p.R327R	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Silent_p.R327R|NLRP3_ENST00000336119.3_Silent_p.R327R|NLRP3_ENST00000391828.3_Silent_p.R327R|NLRP3_ENST00000366496.2_Silent_p.R327R|NLRP3_ENST00000391827.2_Silent_p.R327R	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	327	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGGCCGAGCGGGGAGACATTC	0.582000													18	61					4.75885e-15	7.30097e-15	0.004990	1	0
AIM1	202	broad.mit.edu	37	6	106967187	106967187	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:106967187A>T	ENST00000369066.3	+	2	1367	c.880A>T	c.(880-882)Agg>Tgg	p.R294W		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	294							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TCGAGGCCAAAGGAATACTCC	0.438000													7	18					0	0	0.004482	0	0
EPX	8288	broad.mit.edu	37	17	56280504	56280504	+	Silent	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:56280504C>A	ENST00000225371.5	+	11	1881	c.1771C>A	c.(1771-1773)Cgg>Agg	p.R591R		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	591					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						ACAGCTTAGCCGGGTGCTGAA	0.542000													5	70					0.00136819	0.00148843	0.013537	1	0
KCNH5	27133	broad.mit.edu	37	14	63447944	63447944	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:63447944T>A	ENST00000322893.7	-	6	856	c.588A>T	c.(586-588)aaA>aaT	p.K196N	KCNH5_ENST00000420622.2_Missense_Mutation_p.K196N|KCNH5_ENST00000394968.1_Missense_Mutation_p.K138N|KCNH5_ENST00000394964.2_Missense_Mutation_p.K138N	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	196					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCGCTTCTTGTTTATACTGAG	0.373000													17	85					0	0	0.004990	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5239937	5239937	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:5239937C>T	ENST00000274181.7	+	16	2560	c.2422C>T	c.(2422-2424)Cgg>Tgg	p.R808W		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	808	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CTGGCCCGGCCGGTACAAATT	0.512000													10	187					0	0	0.008291	0	0
MTUS2	23281	broad.mit.edu	37	13	29599885	29599885	+	Silent	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr13:29599885G>C	ENST00000431530.3	+	1	1138	c.1080G>C	c.(1078-1080)ggG>ggC	p.G360G		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	350						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ATCCATGTGGGGAAGCACACC	0.572000													30	30					0	0	0.009535	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508576	106508576	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:106508576C>A	ENST00000359195.3	+	2	880	c.570C>A	c.(568-570)agC>agA	p.S190R	PIK3CG_ENST00000440650.2_Missense_Mutation_p.S190R|PIK3CG_ENST00000496166.1_Missense_Mutation_p.S190R	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	190					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGGTGGCCAGCCGCGACCCCA	0.612000													15	24					4.7546e-09	6.5149e-09	0.028581	1	0
TRAF3IP3	80342	broad.mit.edu	37	1	209936199	209936199	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:209936199G>A	ENST00000367024.1	+	5	1051	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.A159T|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.A159T|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.A179T|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.A159T			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	179						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TAAGAACGATGCCAGTCAGCA	0.458000													13	108					0	0	0.013537	0	0
ADAM11	4185	broad.mit.edu	37	17	42854947	42854947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:42854947C>T	ENST00000200557.6	+	22	2048	c.1879C>T	c.(1879-1881)Cag>Tag	p.Q627*	ADAM11_ENST00000535346.1_Nonsense_Mutation_p.Q427*	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	627	Cys-rich.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CTTCTACCACCAGGGCAAGGA	0.617000													10	46					0	0	0.006214	0	0
OR51F1	256892	broad.mit.edu	37	11	4790884	4790884	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:4790884C>A	ENST00000380383.1	-	1	284	c.285G>T	c.(283-285)tgG>tgT	p.W95C	MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.W88C|MMP26_ENST00000380390.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	88						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTGCCTCAAACCAGAGGATAC	0.428000													4	27					0.00024832	0.000279896	0.009096	1	0
KIAA1549	57670	broad.mit.edu	37	7	138555917	138555917	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:138555917T>A	ENST00000440172.1	-	13	4585	c.4537A>T	c.(4537-4539)Aaa>Taa	p.K1513*	KIAA1549_ENST00000242365.4_Nonsense_Mutation_p.K1463*|KIAA1549_ENST00000422774.1_Nonsense_Mutation_p.K1513*	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1513						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TTGTTGATTTTATTGCTTTCC	0.547000			O	BRAF	pilocytic astrocytoma								3	14					0	0	0.004672	0	0
ROR2	4920	broad.mit.edu	37	9	94487276	94487276	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr9:94487276C>A	ENST00000375708.3	-	9	1698	c.1500G>T	c.(1498-1500)caG>caT	p.Q500H	ROR2_ENST00000375715.1_Missense_Mutation_p.Q360H|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	500	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAGCCTGGGTCTGCTCCCCCG	0.627000													33	160					7.63505e-26	1.27785e-25	0.012213	1	0
NIPBL	25836	broad.mit.edu	37	5	37000950	37000950	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:37000950G>C	ENST00000282516.8	+	13	4033	c.3534G>C	c.(3532-3534)caG>caC	p.Q1178H	NIPBL_ENST00000448238.2_Missense_Mutation_p.Q1178H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1178					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAGAAAAACAGAAGAAAAGGA	0.299000													6	65					0	0	0.003080	0	0
ASPHD2	57168	broad.mit.edu	37	22	26830423	26830423	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr22:26830423C>G	ENST00000215906.5	+	2	1280	c.842C>G	c.(841-843)aCg>aGg	p.T281R		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	281					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						ACTGTGATAACGGAGCACTAT	0.557000													36	94					0	0	0.023175	0	0
HACL1	26061	broad.mit.edu	37	3	15621483	15621483	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:15621483G>T	ENST00000321169.5	-	9	1104	c.737C>A	c.(736-738)cCc>cAc	p.P246H	HACL1_ENST00000457447.2_Missense_Mutation_p.P220H|HACL1_ENST00000435217.2_Intron|HACL1_ENST00000451445.2_Missense_Mutation_p.P164H|HACL1_ENST00000456194.2_Missense_Mutation_p.P219H	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	246					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CATAGGGGTGGGCAAAAATGG	0.443000													11	75					5.16669e-11	7.40455e-11	0.010729	1	0
PABPN1	8106	broad.mit.edu	37	14	23792260	23792260	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:23792260C>T	ENST00000397276.2	+	3	532	c.519C>T	c.(517-519)tcC>tcT	p.S173S	BCL2L2-PABPN1_ENST00000557008.1_Silent_p.S200S|PABPN1_ENST00000557702.1_Silent_p.S45S|PABPN1_ENST00000556821.1_Silent_p.S45S|PABPN1_ENST00000216727.4_Silent_p.S173S|BCL2L2-PABPN1_ENST00000553781.1_Silent_p.S200S					poly(A) binding protein, nuclear 1											large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ATGCCCGTTCCATCTATGTTG	0.448000													4	90					0	0	0.009096	0	0
CDH9	1007	broad.mit.edu	37	5	26988214	26988214	+	Splice_Site	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:26988214T>A	ENST00000231021.4	-	2	399	c.228_splice	c.e2+1	p.K76_splice		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	76	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AATTCTTACCTTGCCTACATA	0.353000													5	50					0	0	0.014758	0	0
MED13	9969	broad.mit.edu	37	17	60040135	60040135	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:60040135A>G	ENST00000397786.2	-	21	5118	c.5042T>C	c.(5041-5043)aTc>aCc	p.I1681T		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1681					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGTACTCTTGATATGAGGAGG	0.373000													6	33					0	0	0.001984	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561157	44561157	+	Missense_Mutation	SNP	A	A	G	rs151287064	byFrequency	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr18:44561157A>G	ENST00000332567.4	-	1	831	c.479T>C	c.(478-480)aTa>aCa	p.I160T	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	160					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGCTGGGGCTATTCTGGGGCA	0.672000													4	40					0	0	0.014758	0	0
PAPPA	5069	broad.mit.edu	37	9	118982343	118982343	+	Silent	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr9:118982343G>T	ENST00000328252.3	+	5	2415	c.2046G>T	c.(2044-2046)ctG>ctT	p.L682L	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	682					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCCAAGTTCTGGGCCACACAA	0.567000													56	70					2.6711e-34	4.54467e-34	0.014410	1	0
RIMS2	9699	broad.mit.edu	37	8	104897987	104897987	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:104897987G>T	ENST00000507740.1	+	2	820	c.584G>T	c.(583-585)aGg>aTg	p.R195M	RIMS2_ENST00000436393.2_Missense_Mutation_p.R165M|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000262231.10_Missense_Mutation_p.R195M|RIMS2_ENST00000406091.3_Missense_Mutation_p.R387M	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	418					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCTATGCTAAGGATGGATCGA	0.463000										HNSCC(12;0.0054)			25	51					7.87624e-14	1.18061e-13	0.016522	1	0
SERPINB13	5275	broad.mit.edu	37	18	61256061	61256061	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr18:61256061G>T	ENST00000344731.5	+	2	262	c.160G>T	c.(160-162)Gag>Tag	p.E54*	SERPINB13_ENST00000269489.5_Nonsense_Mutation_p.E54*	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	54					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTCCCAGTTGGAGGAGGTTGG	0.527000													3	22					0.004672	0.00498439	0.004672	1	0
ST3GAL1	6482	broad.mit.edu	37	8	134488142	134488142	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:134488142C>T	ENST00000319914.5	-	4	1153	c.126G>A	c.(124-126)atG>atA	p.M42I	ST3GAL1_ENST00000521180.1_Missense_Mutation_p.M42I|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.M42I|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.M42I			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	42					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GCTCCAGGACCATCTGCTTGG	0.577000													6	60					0	0	0.001984	0	0
TRIM51	84767	broad.mit.edu	37	11	55658777	55658777	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:55658777G>T	ENST00000449290.2	+	7	1120	c.1028G>T	c.(1027-1029)tGg>tTg	p.W343L	TRIM51_ENST00000244891.3_Missense_Mutation_p.W200L	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	343	B30.2/SPRY.					intracellular	zinc ion binding										AAATATTATTGGGAGGTTCAT	0.428000													31	134					6.38683e-12	9.26413e-12	0.008361	1	0
SMOX	54498	broad.mit.edu	37	20	4163480	4163480	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr20:4163480C>T	ENST00000305958.4	+	5	1579	c.1354C>T	c.(1354-1356)Ctg>Ttg	p.L452L	SMOX_ENST00000339123.6_Silent_p.L399L|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000379460.2_Silent_p.L452L|SMOX_ENST00000278795.3_Silent_p.L399L	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	452					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	CACGGAGATGCTGCGTCAGTT	0.652000													6	34					0	0	0.021553	0	0
CD93	22918	broad.mit.edu	37	20	23065248	23065248	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr20:23065248T>C	ENST00000246006.4	-	1	1729	c.1582A>G	c.(1582-1584)Aca>Gca	p.T528A		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	528					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGGGCAGATGTGATGGGGGCG	0.672000													11	33					0	0	0.013537	0	0
ZNF385D	79750	broad.mit.edu	37	3	21467010	21467010	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:21467010C>G	ENST00000281523.2	-	6	1344	c.826G>C	c.(826-828)Gtc>Ctc	p.V276L		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	276						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TCCGAGTTGACGTGCACATCA	0.438000													7	56					0	0	0.001984	0	0
HNF4A	3172	broad.mit.edu	37	20	43057040	43057040	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr20:43057040G>A	ENST00000316099.3	+	9	1284	c.1195G>A	c.(1195-1197)Gga>Aga	p.G399R	HNF4A_ENST00000457232.1_Missense_Mutation_p.G377R|HNF4A_ENST00000415691.1_Missense_Mutation_p.G399R	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	399					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGAACATATGGGAACCAACGT	0.602000													8	27					0	0	0.004482	0	0
CYP2C8	1558	broad.mit.edu	37	10	96802752	96802752	+	Silent	SNP	A	A	T	rs145569162	byFrequency	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr10:96802752A>T	ENST00000371270.3	-	7	1138	c.1044T>A	c.(1042-1044)acT>acA	p.T348T	CYP2C8_ENST00000535898.1_Silent_p.T246T|CYP2C8_ENST00000539050.1_Silent_p.T262T	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	348					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CTACAGCATCAGTGTAAGGCA	0.498000													16	81					0	0	0.028581	0	0
KRTAP21-1	337977	broad.mit.edu	37	21	32127527	32127527	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr21:32127527C>A	ENST00000335093.3	-	1	219	c.170G>T	c.(169-171)gGa>gTa	p.G57V		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	57						intermediate filament				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						AGagccatatccacagccata	0.512000													31	127					2.42023e-17	3.80247e-17	0.015359	1	0
POSTN	10631	broad.mit.edu	37	13	38143443	38143443	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr13:38143443G>C	ENST00000379747.4	-	21	2542	c.2425C>G	c.(2425-2427)Cag>Gag	p.Q809E	POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000379742.4_Missense_Mutation_p.Q752E|POSTN_ENST00000541179.1_Intron|POSTN_ENST00000541481.1_Missense_Mutation_p.Q722E|POSTN_ENST00000379743.4_Missense_Mutation_p.Q782E|POSTN_ENST00000379749.4_Intron	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	809					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TAACCTCCCTGAAGCAGTCTT	0.368000													5	19					0	0	0.014758	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18662046	18662046	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr9:18662046T>A	ENST00000380548.4	+	9	1399	c.1060T>A	c.(1060-1062)Tgc>Agc	p.C354S	ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C354S|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C354S|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C354S	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	354						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GCTTCAGGAGTGCAACTTGGA	0.413000													12	39					0	0	0.010729	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22873257	22873257	+	Splice_Site	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:22873257G>T	ENST00000251822.6	+	9	2503		c.e9+1		RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Splice_Site|RHOBTB2_ENST00000519685.1_Splice_Site	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		ATGTCCCCAGGTGAGCATCGG	0.612000													3	14					0.004672	0.00498439	0.004672	1	0
RACGAP1	29127	broad.mit.edu	37	12	50390950	50390950	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:50390950C>T	ENST00000434422.1	-	11	1218	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	RACGAP1_ENST00000312377.5_Missense_Mutation_p.R306Q|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R306Q|RACGAP1_ENST00000427314.2_Missense_Mutation_p.R306Q|RACGAP1_ENST00000454520.2_Missense_Mutation_p.R306Q|RACGAP1_ENST00000547061.1_5'UTR|RACGAP1_ENST00000547905.1_Missense_Mutation_p.R306Q			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	306					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						AAATTTTATCCGCTTTCCACA	0.433000													15	42					0	0	0.024245	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46946391	46946391	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr13:46946391C>A	ENST00000429979.1	-	3	824	c.220G>T	c.(220-222)Ggg>Tgg	p.G74W	KIAA0226L_ENST00000378787.3_Missense_Mutation_p.G74W|KIAA0226L_ENST00000378784.4_Intron|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.G74W|KIAA0226L_ENST00000480935.1_Intron|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000534925.1_Intron|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.G74W|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.G74W	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	74										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						CCACTGTTCCCTGCTGCTGGC	0.567000													32	40					6.53348e-20	1.06614e-19	0.017118	1	0
TENM2	57451	broad.mit.edu	37	5	167642069	167642069	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:167642069C>A	ENST00000519204.1	+	20	3625	c.3507C>A	c.(3505-3507)taC>taA	p.Y1169*	TENM2_ENST00000545108.1_Nonsense_Mutation_p.Y1289*|TENM2_ENST00000518659.1_Nonsense_Mutation_p.Y1290*|TENM2_ENST00000520394.1_Nonsense_Mutation_p.Y1051*|TENM2_ENST00000403607.2_Nonsense_Mutation_p.Y1114*					teneurin transmembrane protein 2																		ACAAGTACTACTTGGCAGTGG	0.522000													12	33					4.36969e-10	6.15184e-10	0.016723	1	0
FBXO4	26272	broad.mit.edu	37	5	41929975	41929975	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:41929975A>T	ENST00000296812.2	+	3	658	c.602A>T	c.(601-603)gAg>gTg	p.E201V	FBXO4_ENST00000281623.3_Missense_Mutation_p.E201V|FBXO4_ENST00000509134.1_Missense_Mutation_p.E201V	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	201					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				ATGTCTTCAGAGGAACTTTGC	0.398000													12	147					0	0	0.016723	0	0
NCEH1	57552	broad.mit.edu	37	3	172351586	172351586	+	Silent	SNP	A	A	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:172351586A>T	ENST00000475381.1	-	5	1139	c.906T>A	c.(904-906)ccT>ccA	p.P302P	NCEH1_ENST00000273512.3_Silent_p.P334P|NCEH1_ENST00000538775.1_Silent_p.P342P|NCEH1_ENST00000543711.1_Silent_p.P169P			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	302					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						TCTGTACAACAGGCTTGTAGT	0.552000													14	68					0	0	0.020292	0	0
ATRX	546	broad.mit.edu	37	X	76855270	76855270	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chrX:76855270C>T	ENST00000373344.5	-	24	5931	c.5717G>A	c.(5716-5718)aGt>aAt	p.S1906N	ATRX_ENST00000395603.3_Missense_Mutation_p.S1868N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1906					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCATCCATACTGTCTTCATC	0.308000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						3	21					0	0	0.004672	0	0
GNAI1	2770	broad.mit.edu	37	7	79846622	79846622	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:79846622C>A	ENST00000351004.3	+	8	1251	c.878C>A	c.(877-879)tCa>tAa	p.S293*	GNAI1_ENST00000457358.2_Nonsense_Mutation_p.S241*	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	293					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						ATCTCAGGATCAAACACATAT	0.333000													17	41					4.7546e-09	6.5149e-09	0.028581	1	0
FRG1B	284802	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K														p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333000													4	95					0.00116845	0.00127693	0.021553	1	0
IL7R	3575	broad.mit.edu	37	5	35873614	35873614	+	Silent	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:35873614C>A	ENST00000303115.3	+	5	699	c.570C>A	c.(568-570)ctC>ctA	p.L190L	IL7R_ENST00000506850.1_Silent_p.L190L|IL7R_ENST00000343305.4_Silent_p.L190L	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	190	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AGCTGACACTCCTGCAGAGAA	0.428000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						27	53					1.06801e-11	1.54292e-11	0.009535	1	0
DFFB	1677	broad.mit.edu	37	1	3800259	3800259	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:3800259C>G	ENST00000378209.3	+	7	1294	c.971C>G	c.(970-972)cCc>cGc	p.P324R		NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	324					apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		ATCTACAAACCCCAGACAAGG	0.502000													6	78					0	0	0.003080	0	0
COL4A2	1284	broad.mit.edu	37	13	111158940	111158940	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr13:111158940C>T	ENST00000360467.5	+	46	4887	c.4581C>T	c.(4579-4581)caC>caT	p.H1527H	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1527	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGAAGGCGCACAACCAGGACC	0.627000													3	8					0	0	0.014758	0	0
SBDS	51119	broad.mit.edu	37	7	66458404	66458404	+	Splice_Site	SNP	T	T	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:66458404T>C	ENST00000246868.2	-	3	442	c.258_splice	c.e3-1	p.I87_splice		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	87			I -> S (in SDS).		bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						TTAGTCAAAATCTAAAAAAAT	0.328000			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome				15	45					0	0	0.024245	0	0
REG1P	5969	broad.mit.edu	37	2	79364218	79364218	+	RNA	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:79364218G>T	ENST00000444841.1	-	0	285																											AAAGTAGATTGGAAAGTTTTG	0.483000													4	8					0.014758	0.0155598	0.014758	1	0
ACAN	176	broad.mit.edu	37	15	89392931	89392931	+	Silent	SNP	A	A	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr15:89392931A>G	ENST00000439576.2	+	10	2369	c.1995A>G	c.(1993-1995)ccA>ccG	p.P665P	ACAN_ENST00000558207.1_Silent_p.P665P|ACAN_ENST00000559004.1_Silent_p.P665P|ACAN_ENST00000352105.7_Silent_p.P665P|ACAN_ENST00000561243.1_Silent_p.P665P	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	665					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TCCCAGACCCACTGTCCCGGC	0.632000													7	6					0	0	0.003080	0	0
SMG5	23381	broad.mit.edu	37	1	156244414	156244414	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:156244414C>G	ENST00000361813.5	-	5	662	c.518G>C	c.(517-519)cGa>cCa	p.R173P	SMG5_ENST00000368267.4_Missense_Mutation_p.R173P	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	173					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CACCAGACATCGGTGACATGC	0.478000													37	103					0	0	0.019004	0	0
CSMD3	114788	broad.mit.edu	37	8	114111193	114111193	+	Splice_Site	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:114111193C>G	ENST00000297405.5	-	5	954		c.e5-1		CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000519485.1_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCATCTTCAGCTGTTAAAAAT	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			3	23					0	0	0.004672	0	0
SNX18	112574	broad.mit.edu	37	5	53814569	53814569	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:53814569G>T	ENST00000343017.6	+	1	981	c.787G>T	c.(787-789)Ggg>Tgg	p.G263W	SNX18_ENST00000381410.4_Missense_Mutation_p.G263W|SNX18_ENST00000326277.3_Missense_Mutation_p.G263W	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	263					cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CGTGGTGCTGGGGCCCTATGG	0.627000													9	57					2.17888e-05	2.61611e-05	0.006214	1	0
DDX58	23586	broad.mit.edu	37	9	32488878	32488878	+	Silent	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr9:32488878T>A	ENST00000379882.1	-	6	829	c.672A>T	c.(670-672)ggA>ggT	p.G224G	DDX58_ENST00000379883.2_Silent_p.G269G|DDX58_ENST00000545044.1_Silent_p.G66G|DDX58_ENST00000542096.1_Silent_p.G198G|DDX58_ENST00000379868.1_Silent_p.G66G			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	269					detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CAAAGGTTTTTCCACAACCTT	0.333000													6	19					0	0	0.021553	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	77					0	0	0.014758	0	0
PAX3	5077	broad.mit.edu	37	2	223086091	223086091	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:223086091G>T	ENST00000350526.4	-	6	944	c.808C>A	c.(808-810)Cgc>Agc	p.R270S	PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392070.2_Missense_Mutation_p.R270S|PAX3_ENST00000409551.3_Missense_Mutation_p.R269S|PAX3_ENST00000336840.6_Missense_Mutation_p.R270S|PAX3_ENST00000392069.2_Missense_Mutation_p.R270S|PAX3_ENST00000344493.4_Missense_Mutation_p.R270S	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	270			R -> C (in WS1 and WS3).		apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGCACGGCGGTTGCTAAAC	0.428000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						32	101					8.88839e-20	1.4406e-19	0.010818	1	0
HHIPL2	79802	broad.mit.edu	37	1	222717028	222717028	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:222717028C>T	ENST00000343410.6	-	2	883	c.825G>A	c.(823-825)ttG>ttA	p.L275L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	275					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AAGCCAACCCCAAGAAGCCTC	0.502000													20	77					0	0	0.008871	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27786365	27786365	+	Silent	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:27786365G>T	ENST00000318304.8	+	3	319	c.36G>T	c.(34-36)gcG>gcT	p.A12A	PPFIBP1_ENST00000542629.1_Silent_p.A12A|PPFIBP1_ENST00000228425.6_Silent_p.A12A|PPFIBP1_ENST00000537927.1_Intron|PPFIBP1_ENST00000535047.1_Silent_p.A12A|PPFIBP1_ENST00000545334.1_Silent_p.A12A	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	12					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TGGCTGCAGCGTTGGAGCAGA	0.403000													8	79					0.00448238	0.00481069	0.004482	1	0
OR51A7	119687	broad.mit.edu	37	11	4929496	4929496	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:4929496G>A	ENST00000359350.4	+	1	897	c.897G>A	c.(895-897)tgG>tgA	p.W299*	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACAAATCTGGGAGAAGATCT	0.398000													5	75					0	0	0.021553	0	0
WDFY4	57705	broad.mit.edu	37	10	50154993	50154993	+	Silent	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr10:50154993C>A	ENST00000325239.5	+	50	7983	c.7956C>A	c.(7954-7956)acC>acA	p.T2652T	WDFY4_ENST00000465910.1_3'UTR|WDFY4_ENST00000413659.2_3'UTR	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	2652	BEACH.					integral to membrane	binding			NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						CACCCTTCACCCAGGCCTTCT	0.552000													6	8					0.00116845	0.00127693	0.021553	1	0
COL11A1	1301	broad.mit.edu	37	1	103387097	103387097	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:103387097G>T	ENST00000358392.2	-	48	4038	c.3721C>A	c.(3721-3723)Cct>Act	p.P1241T	COL11A1_ENST00000512756.1_Missense_Mutation_p.P1113T|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1190T|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1229T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1229	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.P1241T(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGACCTTGAGGGCCTCTTGGG	0.368000													3	31					0.00909568	0.00964653	0.009096	1	0
MRI1	84245	broad.mit.edu	37	19	13875414	13875414	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr19:13875414G>T	ENST00000319545.8	+	1	69	c.12G>T	c.(10-12)gaG>gaT	p.E4D	MRI1_ENST00000040663.6_Missense_Mutation_p.E4D	NM_032285.2	NP_115661.1	Q9BV20	MTNA_HUMAN	methylthioribose-1-phosphate isomerase 1	4					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						TGACCCTGGAGGCGATCCGCT	0.716000													4	3					0.000602214	0.0006683	0.014758	1	0
ARL6IP5	10550	broad.mit.edu	37	3	69153634	69153634	+	Silent	SNP	G	G	A	rs142221565	byFrequency	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:69153634G>A	ENST00000273258.3	+	3	518	c.414G>A	c.(412-414)tcG>tcA	p.S138S	ARL6IP5_ENST00000478935.1_Intron	NM_006407.3	NP_006398.1	O75915	PRAF3_HUMAN	ADP-ribosylation-like factor 6 interacting protein 5	138	Targeting to endoplasmic reticulum membrane (By similarity).				L-glutamate transport	endoplasmic reticulum membrane|integral to membrane				biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		TCCATGCATCGTTGAGACTTC	0.443000													11	79					0	0	0.010729	0	0
CHML	1122	broad.mit.edu	37	1	241798348	241798348	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:241798348G>C	ENST00000366553.1	-	1	884	c.721C>G	c.(721-723)Caa>Gaa	p.Q241E	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	241					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AGCAATCCTTGAGAATACAGC	0.333000													5	59					0	0	0.014758	0	0
CYP11B2	1585	broad.mit.edu	37	8	143999131	143999131	+	Silent	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:143999131G>T	ENST00000323110.2	-	1	128	c.126C>A	c.(124-126)ccC>ccA	p.P42P		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	42					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CTGGATGCTGGGGCATGGCTT	0.652000									Familial Hyperaldosteronism type I				7	26					1.6384e-10	2.33407e-10	0.001984	1	0
EPX	8288	broad.mit.edu	37	17	56272420	56272420	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:56272420C>T	ENST00000225371.5	+	6	800	c.690C>T	c.(688-690)ttC>ttT	p.F230F		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	230					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						GGGGCCAGTTCATTGACCATG	0.632000													5	68					0	0	0.021553	0	0
BAGE2	85319	broad.mit.edu	37	21	11049620	11049620	+	RNA	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr21:11049620C>T	ENST00000470054.1	-	0	488									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATCTTCCTTCGCTATAATTA	0.373000													7	241					0	0	0.008291	0	0
TTI1	9675	broad.mit.edu	37	20	36640451	36640451	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr20:36640451G>A	ENST00000373448.2	-	3	2006	c.1768C>T	c.(1768-1770)Cca>Tca	p.P590S	TTI1_ENST00000449821.1_Missense_Mutation_p.P590S|TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000373447.3_Missense_Mutation_p.P590S	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	590							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TGGAGGCCTGGGTGCTCCATC	0.443000													23	47					0	0	0.012319	0	0
REG1P	5969	broad.mit.edu	37	2	79364233	79364233	+	RNA	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:79364233G>C	ENST00000444841.1	-	0	285																											GTTTTGGGCTGATGATTGGAT	0.498000													4	13					0	0	0.009096	0	0
TSSK3	81629	broad.mit.edu	37	1	32829729	32829729	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:32829729T>C	ENST00000373534.3	+	2	1184	c.679T>C	c.(679-681)Tcc>Ccc	p.S227P	FAM229A_ENST00000415596.1_5'UTR	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	227	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				GAAGGGGGTGTCCTTCCCCAC	0.557000													10	125					0	0	0.006214	0	0
WDR60	55112	broad.mit.edu	37	7	158677276	158677276	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:158677276G>T	ENST00000407559.3	+	6	1059	c.901G>T	c.(901-903)Ggt>Tgt	p.G301C		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	301										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CAGAAATCGAGGTGCAAGCTC	0.418000													10	62					1.76689e-08	2.35805e-08	0.006214	1	0
XRN1	54464	broad.mit.edu	37	3	142123763	142123763	+	Silent	SNP	T	T	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:142123763T>C	ENST00000264951.4	-	16	1986	c.1869A>G	c.(1867-1869)gaA>gaG	p.E623E	XRN1_ENST00000392981.2_Silent_p.E623E	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	623					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TACAACATCGTTCTATGGCAG	0.423000													4	11					0	0	0.014758	0	0
ZNF536	9745	broad.mit.edu	37	19	30935733	30935733	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr19:30935733G>T	ENST00000355537.3	+	2	1411	c.1264G>T	c.(1264-1266)Gcc>Tcc	p.A422S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GTCCCAGGAGGCCCACGCCAA	0.622000													43	27					8.01111e-26	1.33767e-25	0.010771	1	0
KIAA1429	25962	broad.mit.edu	37	8	95503860	95503860	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:95503860C>A	ENST00000297591.5	-	22	5161	c.5086G>T	c.(5086-5088)Gga>Tga	p.G1696*	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1696					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GCACCCCGTCCTCCTCTATTG	0.418000													27	85					4.22769e-11	6.07097e-11	0.006320	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43626666	43626666	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr9:43626666G>T	ENST00000332857.6	-	4	2049	c.2021C>A	c.(2020-2022)aCc>aAc	p.T674N		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		ATTTTGTGGGGTCTCACCCAG	0.542000													36	26					4.67007e-22	7.69061e-22	0.008740	1	0
PTPRB	5787	broad.mit.edu	37	12	70963527	70963527	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:70963527C>A	ENST00000334414.6	-	14	3606	c.3562G>T	c.(3562-3564)Gag>Tag	p.E1188*	PTPRB_ENST00000538708.1_Nonsense_Mutation_p.E970*|PTPRB_ENST00000451516.2_Nonsense_Mutation_p.E880*|PTPRB_ENST00000261266.5_Nonsense_Mutation_p.E970*|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.E1187*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.E880*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.E1100*	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	970	Fibronectin type-III 14.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGGTACTGCTCCCCGGCCTCC	0.532000													16	49					3.41278e-10	4.83309e-10	0.004990	1	0
RP1L1	94137	broad.mit.edu	37	8	10466151	10466151	+	Silent	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:10466151C>A	ENST00000382483.3	-	4	5680	c.5457G>T	c.(5455-5457)gcG>gcT	p.A1819A		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1819					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CACCTCCTGCCGCAGCTTCAC	0.607000													76	86					9.59377e-39	1.64008e-38	0.014410	1	0
ZNF695	57116	broad.mit.edu	37	1	247163267	247163267	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:247163267C>A	ENST00000339986.7	-	2	260	c.113G>T	c.(112-114)aGa>aTa	p.R38I	ZNF695_ENST00000487338.2_Missense_Mutation_p.R38I|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	38	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GATCAGGTTTCTGTAGTTCTC	0.438000													14	109					0.00244969	0.00266094	0.020292	1	0
MARK1	4139	broad.mit.edu	37	1	220771719	220771719	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:220771719T>A	ENST00000366918.4	+	4	953	c.356T>A	c.(355-357)aTa>aAa	p.I119K	MARK1_ENST00000366917.4_Missense_Mutation_p.I119K|MARK1_ENST00000402574.1_5'UTR			Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	119	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CATCCTAATATAGGTATGAAa	0.249000													18	21					0	0	0.006122	0	0
ROBO1	6091	broad.mit.edu	37	3	79174643	79174643	+	Silent	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:79174643G>T	ENST00000464233.1	-	3	248	c.135C>A	c.(133-135)ccC>ccA	p.P45P		NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	45					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TATCAGAGGTGGGGATTGGCG	0.507000													16	33					2.32078e-09	3.21064e-09	0.024245	1	0
SI	6476	broad.mit.edu	37	3	164748519	164748519	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:164748519C>A	ENST00000264382.3	-	25	2935	c.2873G>T	c.(2872-2874)cGt>cTt	p.R958L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	958	Isomaltase.|P-type 2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TACACAGCCACGTTGTGTGCA	0.294000										HNSCC(35;0.089)			17	74					1.99824e-07	2.58977e-07	0.004990	1	0
EZR	7430	broad.mit.edu	37	6	159188080	159188080	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:159188080C>G	ENST00000367075.3	-	14	1795	c.1627G>C	c.(1627-1629)Gat>Cat	p.D543H	EZR_ENST00000392177.4_Missense_Mutation_p.D511H|EZR_ENST00000337147.7_Missense_Mutation_p.D543H	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	543	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TTATTCTCATCTCGGGCCTGG	0.567000			T	ROS1	NSCLC								7	90					0	0	0.001984	0	0
PTPRB	5787	broad.mit.edu	37	12	71002929	71002929	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:71002929A>G	ENST00000334414.6	-	4	943	c.899T>C	c.(898-900)cTt>cCt	p.L300P	PTPRB_ENST00000538708.1_Missense_Mutation_p.L82P|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Missense_Mutation_p.L82P|PTPRB_ENST00000261266.5_Missense_Mutation_p.L82P|PTPRB_ENST00000551525.1_Missense_Mutation_p.L299P|PTPRB_ENST00000550857.1_Missense_Mutation_p.L82P|PTPRB_ENST00000550358.1_Missense_Mutation_p.L300P	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	82	Fibronectin type-III 4.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TAAATCTTGAAGGTTACATCC	0.468000													17	45					0	0	0.006122	0	0
NELL1	4745	broad.mit.edu	37	11	20907025	20907025	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:20907025A>C	ENST00000298925.5	+	6	779	c.626A>C	c.(625-627)aAc>aCc	p.N209T	NELL1_ENST00000357134.5_Missense_Mutation_p.N181T|NELL1_ENST00000532434.1_Missense_Mutation_p.N181T|NELL1_ENST00000325319.5_Missense_Mutation_p.N124T			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	181	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CCAGATACCAACCTTCCCCCA	0.408000													12	34					0	0	0.020292	0	0
VARS2	57176	broad.mit.edu	37	6	30882661	30882661	+	Silent	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:30882661G>A	ENST00000321897.5	+	1	680	c.48G>A	c.(46-48)ctG>ctA	p.L16L	VARS2_ENST00000541562.1_Silent_p.L46L|VARS2_ENST00000542001.1_Intron|VARS2_ENST00000416670.2_Silent_p.L16L			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	16					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TTTGGGGGCTGAGGCACTCAC	0.562000													8	47					0	0	0.003080	0	0
OR51F1	256892	broad.mit.edu	37	11	4790885	4790885	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:4790885C>A	ENST00000380383.1	-	1	283	c.284G>T	c.(283-285)tGg>tTg	p.W95L	MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.W88L|MMP26_ENST00000380390.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	88						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGCCTCAAACCAGAGGATACC	0.433000													4	27					0.00024832	0.000279896	0.009096	1	0
GRIA2	2891	broad.mit.edu	37	4	158283966	158283966	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:158283966C>A	ENST00000296526.7	+	15	2747	c.2422C>A	c.(2422-2424)Ctc>Atc	p.L808I	GRIA2_ENST00000393815.2_Missense_Mutation_p.L761I|GRIA2_ENST00000507898.1_Missense_Mutation_p.L761I|GRIA2_ENST00000264426.9_Missense_Mutation_p.L808I|GRIA2_ENST00000449365.1_Missense_Mutation_p.L761I	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	808					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GACCAGTGCCCTCAGTCTGAG	0.453000													8	57					0.00448238	0.00481069	0.004482	1	0
BSX	390259	broad.mit.edu	37	11	122849973	122849973	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:122849973G>T	ENST00000343035.2	-	2	503	c.455C>A	c.(454-456)aCg>aAg	p.T152K		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	152										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GCCCACCTGCGTCTCGGACAG	0.597000													12	58					4.3838e-07	5.60066e-07	0.016723	1	0
CRIPAK	285464	broad.mit.edu	37	4	1389402	1389402	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:1389402C>T	ENST00000324803.4	+	1	4063	c.1103C>T	c.(1102-1104)gCc>gTc	p.A368V		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	368	Interaction with PAK1.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACACACGTGCCCATGTGGAG	0.657000													4	33					0	0	0.014758	0	0
PRKAR1A	5573	broad.mit.edu	37	17	66518896	66518896	+	Splice_Site	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:66518896G>T	ENST00000589228.1	+	3	305		c.e3-1		PRKAR1A_ENST00000586397.1_Splice_Site|PRKAR1A_ENST00000392711.1_Splice_Site|PRKAR1A_ENST00000588188.2_Splice_Site|PRKAR1A_ENST00000536854.2_Splice_Site|PRKAR1A_ENST00000358598.2_Splice_Site	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha						activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					ATTTCTTTCAGGAGGAGGCAA	0.453000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				7	16					0.00307968	0.00332013	0.003080	1	0
FAM179B	23116	broad.mit.edu	37	14	45481232	45481232	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:45481232T>G	ENST00000382233.2	+	6	3142	c.2959T>G	c.(2959-2961)Tgc>Ggc	p.C987G	FAM179B_ENST00000361577.3_Silent_p.S1064S|KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361462.2_Silent_p.S1064S			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	0	Ser-rich.						binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GACTTTCTTCTGCAAAGAAAA	0.299000													6	50					0	0	0.003080	0	0
LUC7L	55692	broad.mit.edu	37	16	242939	242939	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr16:242939G>A	ENST00000337351.4	-	7	886	c.763C>T	c.(763-765)Cgt>Tgt	p.R255C	LUC7L_ENST00000397780.1_Missense_Mutation_p.R202C|LUC7L_ENST00000293872.8_Missense_Mutation_p.R255C|LUC7L_ENST00000397783.1_Missense_Mutation_p.R255C	NM_018032.3	NP_060502.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	255	Arg/Ser-rich.						metal ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CTGCTCAGACGCTCCTCCCGT	0.527000													40	108					0	0	0.011902	0	0
UTP6	55813	broad.mit.edu	37	17	30195071	30195071	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:30195071C>G	ENST00000261708.4	-	17	1694	c.1557G>C	c.(1555-1557)aaG>aaC	p.K519N		NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	519					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TTACTTGCTCCTTTTCAAACT	0.338000													3	33					0	0	0.009096	0	0
ANKRD17	26057	broad.mit.edu	37	4	73987354	73987354	+	Silent	SNP	T	T	G	rs142676632		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:73987354T>G	ENST00000358602.4	-	19	3731	c.3615A>C	c.(3613-3615)gcA>gcC	p.A1205A	ANKRD17_ENST00000330838.6_Silent_p.A954A|ANKRD17_ENST00000509867.2_Silent_p.A1092A|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1205					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCTCAGCTCCTGCATTTAGTA	0.383000													5	96					0	0	0.021553	0	0
FHOD3	80206	broad.mit.edu	37	18	34298543	34298543	+	Silent	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr18:34298543G>T	ENST00000257209.4	+	16	2879	c.2757G>T	c.(2755-2757)cgG>cgT	p.R919R	FHOD3_ENST00000359247.4_Silent_p.R902R|FHOD3_ENST00000590592.1_Silent_p.R1094R|FHOD3_ENST00000591635.1_Silent_p.R115R|FHOD3_ENST00000445677.1_Silent_p.R881R|FHOD3_ENST00000592128.1_5'UTR	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	902	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ATGAAGTTCGGCCTTTTGACT	0.507000													8	374					0.00448238	0.00481069	0.004482	1	0
KIAA1009	22832	broad.mit.edu	37	6	84856412	84856412	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:84856412C>G	ENST00000403245.3	-	25	3978	c.3864G>C	c.(3862-3864)caG>caC	p.Q1288H	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.Q1212H	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	1288					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTACCTCTTTCTGTAGAATTT	0.303000													3	4					0	0	0.004672	0	0
ATP8B4	79895	broad.mit.edu	37	15	50303041	50303041	+	Splice_Site	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr15:50303041C>A	ENST00000284509.6	-	7	577		c.e7+1		ATP8B4_ENST00000559829.1_Splice_Site|ATP8B4_ENST00000558959.1_Splice_Site	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4						ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGAATACTTACAGCAACAAAT	0.249000													3	10					6.4e-05	7.42522e-05	0.004672	1	0
CDC25C	995	broad.mit.edu	37	5	137622186	137622186	+	Splice_Site	SNP	A	A	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:137622186A>G	ENST00000323760.6	-	12	1438	c.1160_splice	c.e12+1	p.M387_splice	CDC25C_ENST00000514555.1_Splice_Site_p.M357_splice|CDC25C_ENST00000513970.1_Splice_Site_p.M387_splice|CDC25C_ENST00000415130.2_Splice_Site_p.M314_splice|CDC25C_ENST00000357274.3_Splice_Site_p.M344_splice|CDC25C_ENST00000348983.3_Splice_Site_p.M314_splice|CDC25C_ENST00000356505.3_Splice_Site_p.M357_splice	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	387	Rhodanese.				cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGACACTCACATTCGGGGGCC	0.473000													10	38					0	0	0.008291	0	0
RHAG	6005	broad.mit.edu	37	6	49586980	49586980	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:49586980G>T	ENST00000371175.4	-	2	279	c.253C>A	c.(253-255)Ctc>Atc	p.L85I	RHAG_ENST00000229810.7_Missense_Mutation_p.L85I	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	85					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					GCAGCAACGAGTAGGTTGATA	0.448000													13	82					5.50884e-06	6.72678e-06	0.013537	1	0
KIAA1551	55196	broad.mit.edu	37	12	32134160	32134160	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:32134160G>T	ENST00000312561.4	+	4	685	c.271G>T	c.(271-273)Gaa>Taa	p.E91*	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		CACTTCAGTAGAAAGAATAAC	0.378000													8	30					2.17888e-05	2.61611e-05	0.006214	1	0
TADA2A	6871	broad.mit.edu	37	17	35802677	35802677	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:35802677C>T	ENST00000394395.2	+	7	628	c.455C>T	c.(454-456)cCt>cTt	p.P152L	TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000225396.6_Missense_Mutation_p.P152L|TADA2A_ENST00000586023.1_Missense_Mutation_p.P152L|TADA2A_ENST00000417170.1_Missense_Mutation_p.P152L	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	152					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						ACAGATGACCCTCCCCGACCT	0.393000													7	34					0	0	0.001984	0	0
SPTA1	6708	broad.mit.edu	37	1	158627308	158627308	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:158627308C>A	ENST00000368148.3	-	19	2944	c.2764G>T	c.(2764-2766)Gta>Tta	p.V922L	SPTA1_ENST00000368147.3_Missense_Mutation_p.V922L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	922					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTATTATCTACAATAGGTTCC	0.443000													18	109					1.56452e-12	2.28784e-12	0.007413	1	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													4	70					0	0	0.014758	0	0
CNBD1	168975	broad.mit.edu	37	8	88365987	88365987	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:88365987G>T	ENST00000518476.1	+	10	1327	c.1276G>T	c.(1276-1278)Gca>Tca	p.A426S		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	426										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AGTTGAGATGGCAATCATTGA	0.323000													5	47					2.7689e-08	3.68161e-08	0.001984	1	0
MYH2	4620	broad.mit.edu	37	17	10432292	10432292	+	Missense_Mutation	SNP	G	G	T	rs142095822		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:10432292G>T	ENST00000245503.5	-	27	3843	c.3459C>A	c.(3457-3459)agC>agA	p.S1153R	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.S1153R|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1153					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCAGCCTCTCGCTGATCTCCT	0.617000													8	65					0.00136819	0.00148843	0.013537	1	0
TMEM38B	55151	broad.mit.edu	37	9	108536317	108536317	+	Missense_Mutation	SNP	G	G	T	rs146683657		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr9:108536317G>T	ENST00000374688.1	+	6	1380	c.670G>T	c.(670-672)Gcc>Tcc	p.A224S	TMEM38B_ENST00000374692.3_Missense_Mutation_p.A278S			Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	278						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						GGTAGATGTTGCCTCAGATAA	0.383000													9	28					7.48243e-07	9.4751e-07	0.006214	1	0
CDH2	1000	broad.mit.edu	37	18	25616459	25616459	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr18:25616459T>A	ENST00000399380.3	-	1	90	c.54A>T	c.(52-54)caA>caT	p.Q18H	CDH2_ENST00000269141.3_Intron			P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	0					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACAATTCTGCTTGGTTCTTTA	0.318000													17	95					0	0	0.006122	0	0
COL11A1	1301	broad.mit.edu	37	1	103387096	103387096	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:103387096G>A	ENST00000358392.2	-	48	4039	c.3722C>T	c.(3721-3723)cCt>cTt	p.P1241L	COL11A1_ENST00000512756.1_Missense_Mutation_p.P1113L|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1190L|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1229L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1229	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGGACCTTGAGGGCCTCTTGG	0.373000													3	31					0	0	0.009096	0	0
NOV	4856	broad.mit.edu	37	8	120435364	120435364	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:120435364A>G	ENST00000259526.3	+	5	1293	c.1066A>G	c.(1066-1068)Aaa>Gaa	p.K356E	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	356					regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TACCAGAGGGAAAATGTAACC	0.493000													28	234					0	0	0.006320	0	0
GON4L	54856	broad.mit.edu	37	1	155727103	155727103	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:155727103C>G	ENST00000437809.1	-	26	5387	c.5265G>C	c.(5263-5265)caG>caC	p.Q1755H	GON4L_ENST00000368331.1_Missense_Mutation_p.Q1755H|GON4L_ENST00000271883.5_Missense_Mutation_p.Q1755H			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1755	PAH 2.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCTGCCACATCTGTGTCTTGA	0.537000													5	40					0	0	0.021553	0	0
PTN	5764	broad.mit.edu	37	7	137028346	137028346	+	Translation_Start_Site	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:137028346C>A	ENST00000348225.2	-	0	265				PTN_ENST00000393083.2_De_novo_Start_OutOfFrame	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin						nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						CTTTCTTCCCCTCTCTCCACT	0.592000													6	59					2.0095e-06	2.50055e-06	0.001984	1	0
HTT	3064	broad.mit.edu	37	4	3156033	3156033	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:3156033C>G	ENST00000355072.5	+	27	3657	c.3512C>G	c.(3511-3513)tCt>tGt	p.S1171C		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1171					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCCTTGCCTTCTCTAACAAAC	0.383000													4	10					0	0	0.009096	0	0
PSMD7	5713	broad.mit.edu	37	16	74336183	74336183	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr16:74336183T>A	ENST00000219313.4	+	5	571	c.431T>A	c.(430-432)gTc>gAc	p.V144D	PSMD7_ENST00000568615.2_Missense_Mutation_p.V144D|PSMD7_ENST00000540379.1_Missense_Mutation_p.V67D|PSMD7_ENST00000567958.1_Missense_Mutation_p.V144D	NM_002811.4	NP_002802.2	P51665	PSD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	144				VH -> DQ (in Ref. 1; BAA08780).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						GTGGAAGAAGTCCATGATGTA	0.418000													17	77					0	0	0.006122	0	0
RANBP2	5903	broad.mit.edu	37	2	109383270	109383270	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:109383270C>T	ENST00000283195.6	+	20	6401	c.6275C>T	c.(6274-6276)aCg>aTg	p.T2092M		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2092	RanBD1 2.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATAACGACTACGATGAACCTG	0.413000													118	163					0	0	0.014410	0	0
AOAH	313	broad.mit.edu	37	7	36616225	36616225	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:36616225T>A	ENST00000431169.1	-	13	1276	c.976A>T	c.(976-978)Aga>Tga	p.R326*	AOAH_ENST00000538464.1_Nonsense_Mutation_p.R48*|AOAH_ENST00000258749.5_Nonsense_Mutation_p.R326*|AOAH_ENST00000535891.1_Nonsense_Mutation_p.R294*	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	326					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						CAGTGGTTTCTTTTCCATAAG	0.294000													18	88					0	0	0.006122	0	0
FMO4	2329	broad.mit.edu	37	1	171310612	171310612	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:171310612C>T	ENST00000367749.3	+	10	1641	c.1311C>T	c.(1309-1311)atC>atT	p.I437I		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	437					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGGATGATATCGCTGCCTGCA	0.453000													16	79					0	0	0.024245	0	0
GPR83	10888	broad.mit.edu	37	11	94113409	94113409	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:94113409C>A	ENST00000243673.2	-	4	1349	c.1178G>T	c.(1177-1179)aGg>aTg	p.R393M	GPR83_ENST00000539203.2_Missense_Mutation_p.R351M	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	393						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAGGGGAGCCCTCTGGCCATC	0.567000													12	42					6.40141e-05	7.42522e-05	0.010729	1	0
ZMIZ1	57178	broad.mit.edu	37	10	81065350	81065350	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr10:81065350C>T	ENST00000334512.5	+	21	2987	c.2415C>T	c.(2413-2415)gcC>gcT	p.A805A		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	805					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TCCTGAATGCCATCCAACAGT	0.602000													18	60					0	0	0.007413	0	0
CUL9	23113	broad.mit.edu	37	6	43152449	43152449	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:43152449G>A	ENST00000252050.4	+	2	485	c.401G>A	c.(400-402)gGg>gAg	p.G134E	CUL9_ENST00000354495.3_Missense_Mutation_p.G134E|CUL9_ENST00000372647.2_Missense_Mutation_p.G134E	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	134					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCAGAAAGTGGGACCCCAAGC	0.637000													10	98					0	0	0.008291	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477130	110477130	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:110477130C>A	ENST00000378402.5	+	49	8173	c.8069C>A	c.(8068-8070)gCt>gAt	p.A2690D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2690					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGATCCTGGCTCCTTATGTT	0.463000										HNSCC(38;0.096)			30	174					1.39806e-14	2.10883e-14	0.008361	1	0
OR6A2	8590	broad.mit.edu	37	11	6816690	6816690	+	Missense_Mutation	SNP	C	C	G	rs111641381		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:6816690C>G	ENST00000332601.3	-	1	438	c.250G>C	c.(250-252)Gct>Cct	p.A84P		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACAAAGCCAGCAAGCATCTTG	0.453000													17	41					0	0	0.004990	0	0
IGF1R	3480	broad.mit.edu	37	15	99500385	99500385	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr15:99500385G>T	ENST00000268035.6	+	21	4429	c.3818G>T	c.(3817-3819)gGc>gTc	p.G1273V	IGF1R_ENST00000558762.1_Missense_Mutation_p.G1272V|RP11-654A16.3_ENST00000559468.1_RNA	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1273	Protein kinase.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	ATGGAGCCTGGCTTCCGGGAG	0.577000													8	29					0.00307968	0.00332013	0.003080	1	0
POMGNT2	84892	broad.mit.edu	37	3	43121364	43121364	+	Silent	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:43121364C>G	ENST00000344697.2	-	2	1905	c.1560G>C	c.(1558-1560)gtG>gtC	p.V520V	GTDC2_ENST00000441964.1_Silent_p.V520V	NM_032806.4	NP_116195.2																					CCTCGTACTTCACCTCCCTCA	0.587000													3	30					0	0	0.004672	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3405623	3405623	+	Missense_Mutation	SNP	G	G	T	rs143418079		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:3405623G>T	ENST00000324266.5	+	3	1318	c.1123G>T	c.(1123-1125)Gac>Tac	p.D375Y	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.D375Y	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	375							binding										CCTAAATGCCGACTCAGTGGA	0.403000													32	65					1.30897e-18	2.09319e-18	0.009535	1	0
RNASE9	390443	broad.mit.edu	37	14	21024699	21024699	+	Missense_Mutation	SNP	C	C	T	rs147407456	byFrequency	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:21024699C>T	ENST00000557068.1	-	4	2255	c.530G>A	c.(529-531)cGt>cAt	p.R177H	RNASE9_ENST00000554964.1_Missense_Mutation_p.R177H|RNASE9_ENST00000553706.1_Missense_Mutation_p.R182H|RNASE9_ENST00000429244.2_Missense_Mutation_p.R177H|RNASE9_ENST00000553541.1_Missense_Mutation_p.R177H|RNASE9_ENST00000557209.1_Missense_Mutation_p.R182H|RNASE9_ENST00000556208.1_Missense_Mutation_p.R182H|RNASE9_ENST00000404716.3_Missense_Mutation_p.R182H|RNASE9_ENST00000555230.1_Missense_Mutation_p.R177H|RNASE9_ENST00000338904.3_Missense_Mutation_p.R177H			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	177						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		ATGAGGAATACGTTTTTGCAT	0.413000													4	39					0	0	0.009096	0	0
VSTM1	284415	broad.mit.edu	37	19	54561570	54561570	+	Silent	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr19:54561570C>G	ENST00000338372.2	-	3	520	c.345G>C	c.(343-345)ctG>ctC	p.L115L	VSTM1_ENST00000425006.2_Silent_p.L115L|VSTM1_ENST00000376626.1_Silent_p.L115L|VSTM1_ENST00000366170.2_Intron	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	115						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		CTGTGACCACCAGCTGCAAGT	0.473000													15	26					0	0	0.028581	0	0
GPR112	139378	broad.mit.edu	37	X	135432188	135432188	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chrX:135432188C>T	ENST00000394143.1	+	6	6614	c.6323C>T	c.(6322-6324)tCc>tTc	p.S2108F	GPR112_ENST00000394141.1_Missense_Mutation_p.S1903F|GPR112_ENST00000412101.1_Missense_Mutation_p.S1903F|GPR112_ENST00000370652.1_Missense_Mutation_p.S2108F|GPR112_ENST00000287534.4_Missense_Mutation_p.S2045F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2108					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCTGAGGCATCCTCCAGAACC	0.468000													73	41					0	0	0.014410	0	0
NF1	4763	broad.mit.edu	37	17	29657349	29657349	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:29657349G>T	ENST00000358273.4	+	39	6028	c.5645G>T	c.(5644-5646)tGt>tTt	p.C1882F	NF1_ENST00000356175.3_Missense_Mutation_p.C1861F|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1882					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.C1882Y(4)|p.?(3)|p.C1882F(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCCTTAACTTGTACCTTTAAT	0.353000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			14	18					1.3612e-06	1.70566e-06	0.024245	1	0
STMN2	11075	broad.mit.edu	37	8	80553737	80553737	+	Silent	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:80553737C>A	ENST00000220876.7	+	3	622	c.240C>A	c.(238-240)tcC>tcA	p.S80S	STMN2_ENST00000518111.1_Silent_p.S80S|STMN2_ENST00000518491.1_Silent_p.S69S	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin-like 2	80	Regulatory/phosphorylation domain (Potential).				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			AAGACCTGTCCCTGGAGGAGA	0.502000													5	86					8.12818e-05	9.35262e-05	0.001984	1	0
SLC26A7	115111	broad.mit.edu	37	8	92307883	92307883	+	Silent	SNP	A	A	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:92307883A>G	ENST00000276609.3	+	4	668	c.429A>G	c.(427-429)caA>caG	p.Q143Q	SLC26A7_ENST00000309536.2_Silent_p.Q143Q|SLC26A7_ENST00000523719.1_Silent_p.Q143Q	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	143						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTGAAATGCAAAGGATCCACG	0.502000													23	60					0	0	0.016522	0	0
GABRA6	2559	broad.mit.edu	37	5	161116276	161116276	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:161116276G>T	ENST00000523217.1	+	5	675	c.433G>T	c.(433-435)Gac>Tac	p.D145Y	GABRA6_ENST00000274545.5_Missense_Mutation_p.D155Y|RP11-348M17.2_ENST00000521984.1_RNA	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	155					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CATCAATGCTGACTGTCCCAT	0.418000										TCGA Ovarian(5;0.080)			10	69					1.58986e-06	1.98871e-06	0.008291	1	0
MSH3	4437	broad.mit.edu	37	5	80064744	80064744	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:80064744G>T	ENST00000265081.6	+	15	2255	c.2175G>T	c.(2173-2175)gaG>gaT	p.E725D		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	725					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TTATTGACGAGATCCGAATGC	0.328000								Mismatch excision repair (MMR)					11	37					0.000673444	0.000745043	0.008291	1	0
FKBP1B	2281	broad.mit.edu	37	2	24276806	24276806	+	Silent	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:24276806G>C	ENST00000380991.4	+	2	221	c.72G>C	c.(70-72)gtG>gtC	p.V24V	FKBP1B_ENST00000380986.4_Silent_p.V24V|FKBP1B_ENST00000452109.1_5'UTR			P68106	FKB1B_HUMAN	FK506 binding protein 1B, 12.6 kDa	24	PPIase FKBP-type.				'de novo' protein folding|negative regulation of heart rate|negative regulation of protein phosphatase type 2B activity|protein maturation by protein folding|protein refolding|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|regulation of ryanodine-sensitive calcium-release channel activity|response to redox state	calcium channel complex|sarcoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor binding			lung(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAACGTGTGTGGTGCACTACA	0.557000													35	41					0	0	0.012213	0	0
HERC2P3	283755	broad.mit.edu	37	15	20651276	20651276	+	RNA	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr15:20651276C>T	ENST00000428453.1	-	0	2361																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TTCATATCTTCCTCAACGCTG	0.478000													4	33					0	0	0.014758	0	0
KDM3A	55818	broad.mit.edu	37	2	86707321	86707321	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:86707321G>T	ENST00000409556.1	+	17	2713	c.2348G>T	c.(2347-2349)gGt>gTt	p.G783V	KDM3A_ENST00000312912.5_Missense_Mutation_p.G783V|KDM3A_ENST00000409064.1_Missense_Mutation_p.G783V|KDM3A_ENST00000542128.1_Missense_Mutation_p.G731V			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	783					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CCGACTCTTGGTGCAGTGCTC	0.507000													25	60					9.22233e-05	0.000105946	0.024334	1	0
MIR890	100126303	broad.mit.edu	37	X	145075861	145075861	+	RNA	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chrX:145075861G>A	ENST00000401256.1	-	0	8					NR_030589.1																						TTCCAAGTAGGGCACTTCCCA	0.483000													5	77					0	0	0.014758	0	0
HAUS5	23354	broad.mit.edu	37	19	36109850	36109850	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr19:36109850G>T	ENST00000203166.5	+	13	1103	c.1078G>T	c.(1078-1080)Gat>Tat	p.D360Y	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	360					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GGCCCTGCACGATCAGAGCCA	0.637000													48	20					1.4374e-25	2.39455e-25	0.014410	1	0
PPP1R3F	89801	broad.mit.edu	37	X	49142834	49142834	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chrX:49142834G>T	ENST00000055335.6	+	4	1698	c.1682G>T	c.(1681-1683)gGg>gTg	p.G561V	PPP1R3F_ENST00000438316.1_Missense_Mutation_p.G232V|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.G215V|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.G215V|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.G215V	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	561						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GCCCGGCTGGGGCGTGGCGTG	0.637000													14	5					6.31663e-08	8.32172e-08	0.024245	1	0
GALNT7	51809	broad.mit.edu	37	4	174216973	174216973	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:174216973T>A	ENST00000265000.4	+	5	1027	c.944T>A	c.(943-945)gTa>gAa	p.V315E	GALNT7_ENST00000512285.1_Missense_Mutation_p.V315E	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	315	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		GCACCACTTGTAGCTCCCATA	0.388000													19	41					0	0	0.014323	0	0
TDRD1	56165	broad.mit.edu	37	10	115973205	115973205	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr10:115973205G>T	ENST00000251864.2	+	15	2085	c.1932G>T	c.(1930-1932)ttG>ttT	p.L644F	TDRD1_ENST00000369282.1_Missense_Mutation_p.L644F|TDRD1_ENST00000422662.1_Missense_Mutation_p.L248F|TDRD1_ENST00000369281.2_Missense_Mutation_p.L587F|TDRD1_ENST00000369280.1_Missense_Mutation_p.L644F	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	644					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGGACAAGTTGGAAAACAGTT	0.418000													18	79					3.32936e-07	4.26871e-07	0.006122	1	0
PCDHA3	56145	broad.mit.edu	37	5	140181097	140181097	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:140181097C>A	ENST00000522353.2	+	1	315	c.315C>A	c.(313-315)caC>caA	p.H105Q	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.H105Q|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCATCCACCTGGAGGTGA	0.532000													12	41					1.05317e-09	1.47116e-09	0.020292	1	0
RALGAPA1	253959	broad.mit.edu	37	14	36192258	36192258	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:36192258C>A	ENST00000258840.6	-	15	2469	c.2079G>T	c.(2077-2079)caG>caT	p.Q693H	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.Q693H|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.Q693H|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.Q693H|RALGAPA1_ENST00000554704.1_5'UTR			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	693					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTTTTTGTTTCTGTTCACTCA	0.343000													13	40					2.27111e-07	2.93812e-07	0.013537	1	0
PCDHGB1	56104	broad.mit.edu	37	5	140730252	140730252	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:140730252C>T	ENST00000523390.1	+	1	425	c.425C>T	c.(424-426)tCa>tTa	p.S142L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTGTGAGTCAGCCTTACCC	0.408000													9	77					0	0	0.004482	0	0
TCTN2	79867	broad.mit.edu	37	12	124184347	124184347	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:124184347C>T	ENST00000303372.5	+	14	1730	c.1602C>T	c.(1600-1602)ctC>ctT	p.L534L	TCTN2_ENST00000426174.2_Silent_p.L533L	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	534					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		ATGGCTGGCTCGAAATAATAC	0.463000													5	35					0	0	0.014758	0	0
CNTN5	53942	broad.mit.edu	37	11	99827611	99827611	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:99827611G>T	ENST00000524871.1	+	8	1037	c.747G>T	c.(745-747)caG>caT	p.Q249H	CNTN5_ENST00000528682.1_Missense_Mutation_p.Q249H|CNTN5_ENST00000279463.3_Missense_Mutation_p.Q249H|CNTN5_ENST00000418526.2_Missense_Mutation_p.Q175H|CNTN5_ENST00000527185.1_Missense_Mutation_p.Q249H	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	249	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCATCTCCCAGGAGACAGGCA	0.428000													25	37					8.24728e-16	1.27345e-15	0.024334	1	0
SOX6	55553	broad.mit.edu	37	11	16036488	16036488	+	Splice_Site	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:16036488C>G	ENST00000352083.6	-	13	1809	c.1732_splice	c.e13+1	p.G578_splice	SOX6_ENST00000396356.3_Splice_Site_p.G578_splice|SOX6_ENST00000316399.6_Splice_Site_p.G578_splice|SOX6_ENST00000528429.1_Splice_Site_p.G578_splice|SOX6_ENST00000527619.1_Splice_Site_p.G554_splice|SOX6_ENST00000528252.1_Splice_Site_p.G551_splice			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	578					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						AGCCACTCACCCTCTGCATCT	0.458000													11	54					0	0	0.008291	0	0
CHRM2	1129	broad.mit.edu	37	7	136700435	136700435	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:136700435G>T	ENST00000445907.2	+	3	1351	c.823G>T	c.(823-825)Gtt>Ttt	p.V275F	AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.V275F|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.V275F|CHRM2_ENST00000401861.1_Missense_Mutation_p.V275F|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.V275F|CHRM2_ENST00000320658.5_Missense_Mutation_p.V275F	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	275					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TGAAAACTGTGTTCAGGGAGA	0.483000													16	79					2.48551e-13	3.69481e-13	0.004990	1	0
POLR3B	55703	broad.mit.edu	37	12	106890557	106890557	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:106890557G>C	ENST00000228347.4	+	25	3067	c.2845G>C	c.(2845-2847)Ggc>Cgc	p.G949R	POLR3B_ENST00000539066.1_Missense_Mutation_p.G891R|RP11-144F15.1_ENST00000551505.1_Intron	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	949					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GCTGCTGGCTGGCAAGGCCGG	0.532000													5	46					0	0	0.001984	0	0
CUL9	23113	broad.mit.edu	37	6	43152229	43152229	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:43152229G>C	ENST00000252050.4	+	2	265	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	CUL9_ENST00000354495.3_Missense_Mutation_p.E61Q|CUL9_ENST00000372647.2_Missense_Mutation_p.E61Q	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	61					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGGCAAAGCAGAGCACATCCT	0.577000													12	83					0	0	0.016723	0	0
MAP1B	4131	broad.mit.edu	37	5	71495423	71495423	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:71495423G>T	ENST00000296755.7	+	5	6539	c.6241G>T	c.(6241-6243)Gat>Tat	p.D2081Y		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2081						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCAGGATGTCGATTTATGCCT	0.478000													94	130					8.68486e-57	1.4918e-56	0.014410	1	0
NPHS1	4868	broad.mit.edu	37	19	36342405	36342405	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr19:36342405C>A	ENST00000378910.5	-	2	227	c.228G>T	c.(226-228)agG>agT	p.R76S	NPHS1_ENST00000353632.6_Missense_Mutation_p.R76S	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	76	Ig-like C2-type 1.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCCTGGGATCCTGGGGTCGG	0.672000													6	37					0.00116845	0.00127693	0.021553	1	0
SYT16	83851	broad.mit.edu	37	14	62541877	62541877	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:62541877G>T	ENST00000430451.2	+	3	958	c.761G>T	c.(760-762)cGt>cTt	p.R254L	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Missense_Mutation_p.R254L	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	254										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AGCCAACGGCGTTATTCTGAG	0.428000													8	86					7.48243e-07	9.4751e-07	0.006214	1	0
TSSK1B	83942	broad.mit.edu	37	5	112770252	112770252	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:112770252C>A	ENST00000390666.3	-	1	476	c.285G>T	c.(283-285)caG>caT	p.Q95H	CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	95	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GGAGGTCGCCCTGGACCGCGA	0.527000													12	31					0.0167234	0.0176061	0.016723	1	0
PRRC1	133619	broad.mit.edu	37	5	126860309	126860309	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:126860309C>T	ENST00000442138.2	+	3	336	c.190C>T	c.(190-192)Cct>Tct	p.P64S	PRRC1_ENST00000296666.8_Missense_Mutation_p.P64S|PRRC1_ENST00000512635.2_Missense_Mutation_p.P64S			Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	64	Pro-rich.					Golgi apparatus				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		GCCGCCCCTTCCTCCTGTGAG	0.512000													14	115					0	0	0.024245	0	0
TG	7038	broad.mit.edu	37	8	134144116	134144116	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:134144116G>T	ENST00000220616.4	+	46	7963	c.7923G>T	c.(7921-7923)gaG>gaT	p.E2641D	TG_ENST00000377869.1_Missense_Mutation_p.E2584D|TG_ENST00000519543.1_Missense_Mutation_p.E774D|TG_ENST00000542445.1_Missense_Mutation_p.E1011D	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2641					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGCCTACGAGGGGCAGTTTT	0.498000													9	63					5.4927e-09	7.48342e-09	0.004482	1	0
NPAP1	23742	broad.mit.edu	37	15	24923778	24923778	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr15:24923778C>G	ENST00000329468.2	+	1	3238	c.2764C>G	c.(2764-2766)Cca>Gca	p.P922A		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCCAGCAACCCCAGCACCAGT	0.468000													7	53					0	0	0.001984	0	0
USP17L2	377630	broad.mit.edu	37	8	11995836	11995836	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:11995836G>T	ENST00000333796.3	-	1	750	c.434C>A	c.(433-435)cCc>cAc	p.P145H	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	145					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TGCCTGTGAGGGCTGGATGAC	0.527000													8	32					0.000274275	0.000307702	0.004482	1	0
HIST1H4C	8364	broad.mit.edu	37	6	26104274	26104274	+	Silent	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:26104274G>T	ENST00000377803.2	+	1	171	c.99G>T	c.(97-99)ccG>ccT	p.P33P		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	33					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						TTACAAAACCGGCTATTCGCC	0.542000													37	22					6.19805e-25	1.03014e-24	0.023175	1	0
APOB	338	broad.mit.edu	37	2	21228450	21228450	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:21228450C>A	ENST00000233242.1	-	26	11417	c.11290G>T	c.(11290-11292)Gac>Tac	p.D3764Y		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3764					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCTCTGAAGTCAAGTTTGCAC	0.403000													4	121					1.23904e-05	1.49769e-05	0.014758	1	0
RAB40AL	282808	broad.mit.edu	37	X	102193080	102193080	+	Silent	SNP	T	T	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chrX:102193080T>C	ENST00000218249.5	+	1	881	c.834T>C	c.(832-834)tcT>tcC	p.S278S	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	278					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						GCAAAATTTCTTAAGGAAGGC	0.473000													4	54					0	0	0.009096	0	0
TPO	7173	broad.mit.edu	37	2	1440084	1440084	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:1440084T>C	ENST00000345913.4	+	5	501	c.410T>C	c.(409-411)aTg>aCg	p.M137T	TPO_ENST00000382269.3_Missense_Mutation_p.M137T|TPO_ENST00000329066.4_Missense_Mutation_p.M137T|TPO_ENST00000382198.1_Missense_Mutation_p.M137T|TPO_ENST00000349624.3_Missense_Mutation_p.M137T|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.M137T|TPO_ENST00000382201.3_Missense_Mutation_p.M137T|TPO_ENST00000337415.3_Missense_Mutation_p.M137T|TPO_ENST00000539820.1_Missense_Mutation_p.M137T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	137					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTCCCTTACATGCTGCCCCCA	0.433000													7	50					0	0	0.001984	0	0
CACNA2D1	781	broad.mit.edu	37	7	81634805	81634805	+	Silent	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:81634805G>A	ENST00000356860.3	-	18	1862	c.1524C>T	c.(1522-1524)ccC>ccT	p.P508P	CACNA2D1_ENST00000356253.5_Silent_p.P508P|CACNA2D1_ENST00000464354.1_5'UTR	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	508	Cache.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AATACCCATTGGGGCACAGCT	0.299000													4	14					0	0	0.009096	0	0
SPTA1	6708	broad.mit.edu	37	1	158639340	158639340	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:158639340C>A	ENST00000368148.3	-	14	1871	c.1691G>T	c.(1690-1692)cGg>cTg	p.R564L	SPTA1_ENST00000368147.3_Missense_Mutation_p.R564L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	564					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TAGGGCATCCCGCCGGGCTAA	0.493000													35	75					2.20474e-14	3.31172e-14	0.017118	1	0
DMD	1756	broad.mit.edu	37	X	31497208	31497208	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chrX:31497208C>T	ENST00000357033.4	-	58	8766	c.8560G>A	c.(8560-8562)Gaa>Aaa	p.E2854K	DMD_ENST00000378707.3_Missense_Mutation_p.E394K|DMD_ENST00000359836.1_Missense_Mutation_p.E394K|DMD_ENST00000474231.1_Missense_Mutation_p.E394K|DMD_ENST00000378677.2_Missense_Mutation_p.E2850K|DMD_ENST00000343523.2_Missense_Mutation_p.E394K|DMD_ENST00000541735.1_Missense_Mutation_p.E394K|DMD_ENST00000445312.1_5'UTR	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2854					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTTTTCAATTCCCTCTTGAAG	0.393000													6	8					0	0	0.021553	0	0
KCNU1	157855	broad.mit.edu	37	8	36671880	36671880	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:36671880C>T	ENST00000399881.3	+	8	925	c.888C>T	c.(886-888)ttC>ttT	p.F296F		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	296						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCATGTTCTTCACACTGGGGA	0.358000													3	27					0	0	0.004672	0	0
HHIPL2	79802	broad.mit.edu	37	1	222713539	222713539	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:222713539C>A	ENST00000343410.6	-	4	1321	c.1263G>T	c.(1261-1263)atG>atT	p.M421I		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	421					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CACAACGCCACATGTTCCTGA	0.612000													28	60					8.16721e-17	1.27479e-16	0.010818	1	0
MYH11	4629	broad.mit.edu	37	16	15917148	15917148	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr16:15917148C>T	ENST00000338282.6	-	3	572	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	MYH11_ENST00000396324.3_Missense_Mutation_p.A156T|MYH11_ENST00000452625.2_Missense_Mutation_p.A156T|MYH11_ENST00000300036.5_Missense_Mutation_p.A156T|MYH11_ENST00000576790.1_Missense_Mutation_p.A156T	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	156	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCTGCGATGGCGTAGATGTGA	0.592000			T	CBFB	AML								15	36					0	0	0.004990	0	0
SLC2A7	155184	broad.mit.edu	37	1	9083086	9083086	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:9083086T>A	ENST00000400906.1	-	3	201	c.202A>T	c.(202-204)Atg>Ttg	p.M68L		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	68						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TTCCCGTCCATGAATGTTGCG	0.502000													12	96					0	0	0.016723	0	0
CCDC87	55231	broad.mit.edu	37	11	66358918	66358918	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:66358918C>A	ENST00000333861.3	-	1	1636	c.1569G>T	c.(1567-1569)tgG>tgT	p.W523C		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	523										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGAAGGTCGACCAGTCTTTAT	0.483000													4	30					0.00024832	0.000279896	0.009096	1	0
PNLIPRP2	5408	broad.mit.edu	37	10	118386478	118386478	+	RNA	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr10:118386478C>T	ENST00000537242.1	+	0	460				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	p.A145V(2)		endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GTTGTTGGGGCGGAGACAGCT	0.567000													5	7					0	0	0.014758	0	0
PAPPA2	60676	broad.mit.edu	37	1	176659552	176659552	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:176659552A>G	ENST00000367662.3	+	5	3581	c.2417A>G	c.(2416-2418)tAc>tGc	p.Y806C	PAPPA2_ENST00000367661.3_Missense_Mutation_p.Y806C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	806					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTCACCAACTACATGAGCTAC	0.567000													28	190					0	0	0.008361	0	0
OR51V1	283111	broad.mit.edu	37	11	5221342	5221342	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:5221342C>A	ENST00000321255.1	-	1	588	c.589G>T	c.(589-591)Gcc>Tcc	p.A197S		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGAACAGGCTAAGCGGAGA	0.413000													8	71					0.00307968	0.00332013	0.003080	1	0
KDM2B	84678	broad.mit.edu	37	12	121881939	121881939	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:121881939C>G	ENST00000377069.4	-	16	2640	c.2234G>C	c.(2233-2235)cGc>cCc	p.R745P	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.R144P|KDM2B_ENST00000377071.4_Missense_Mutation_p.R776P	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	776					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						ATCCGACCTGCGCCGGGGCGC	0.627000											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	36					0	0	0.006214	0	0
MAST1	22983	broad.mit.edu	37	19	12958233	12958233	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr19:12958233C>T	ENST00000251472.4	+	5	496	c.457C>T	c.(457-459)Cca>Tca	p.P153S	MAST1_ENST00000591495.1_Missense_Mutation_p.P149S	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	153					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCGTCGCTCCCCAGCCGTGCG	0.637000											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	26					0	0	0.024245	0	0
DNAJC2	27000	broad.mit.edu	37	7	102957425	102957425	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:102957425C>T	ENST00000379263.3	-	13	1529	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.E374K	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	427					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TCAGCTTCCTCTTTCTCTTTT	0.383000													9	76					0	0	0.008291	0	0
AP4E1	23431	broad.mit.edu	37	15	51294697	51294697	+	Splice_Site	SNP	A	A	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr15:51294697A>G	ENST00000261842.5	+	21	3359		c.e21-1		AP4E1_ENST00000561397.1_Splice_Site|AP4E1_ENST00000560508.1_Splice_Site	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit						intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		gttttgttttAGGCAATGAAG	0.408000													3	85					0	0	0.004672	0	0
ABI3	51225	broad.mit.edu	37	17	47295250	47295250	+	Silent	SNP	C	C	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:47295250C>T	ENST00000225941.1	+	3	933	c.435C>T	c.(433-435)tgC>tgT	p.C145C	ABI3_ENST00000419580.2_Silent_p.C139C	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	ABI family, member 3	145					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			ACTTTGGCTGCCTGGACGACA	0.632000										HNSCC(55;0.14)			12	68					0	0	0.028581	0	0
FRAS1	80144	broad.mit.edu	37	4	79447788	79447788	+	Silent	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:79447788C>A	ENST00000264895.6	+	70	11342	c.10902C>A	c.(10900-10902)gcC>gcA	p.A3634A		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3629					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGCCTTTGGCCTGCACTGCAC	0.448000													8	11					0.000157383	0.000179652	0.003080	1	0
TLL1	7092	broad.mit.edu	37	4	167020606	167020606	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:167020606G>T	ENST00000061240.2	+	20	3481	c.2834G>T	c.(2833-2835)gGc>gTc	p.G945V	TLL1_ENST00000507499.1_Missense_Mutation_p.G968V	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	945	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GCAGACTGTGGCTATGACTAT	0.473000													11	133					0.000673444	0.000745043	0.008291	1	0
PROL1	58503	broad.mit.edu	37	4	71275726	71275726	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:71275726C>A	ENST00000399575.2	+	3	855	c.681C>A	c.(679-681)aaC>aaA	p.N227K		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	227	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CGACTTCCAACCAAACTATAT	0.413000													8	70					0.000157383	0.000179652	0.003080	1	0
COQ3	51805	broad.mit.edu	37	6	99825363	99825363	+	Splice_Site	SNP	T	T	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:99825363T>A	ENST00000254759.3	-	4	411		c.e4-2		COQ3_ENST00000369242.1_Splice_Site|COQ3_ENST00000479163.1_Splice_Site	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase						glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		AGATTGTCCCTTTTTTAAAAA	0.338000													4	17					0	0	0.014758	0	0
TRAF3	7187	broad.mit.edu	37	14	103369718	103369718	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:103369718G>A	ENST00000560371.1	+	10	1304	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	TRAF3_ENST00000539721.1_Missense_Mutation_p.E280K|TRAF3_ENST00000392745.2_Missense_Mutation_p.E363K|TRAF3_ENST00000351691.5_Missense_Mutation_p.E338K|TRAF3_ENST00000347662.4_Missense_Mutation_p.E338K	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	363					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		CCGCGTGACCGAGCTGGAGAG	0.662000													10	36					0	0	0.006214	0	0
MMP11	4320	broad.mit.edu	37	22	24123581	24123581	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr22:24123581A>G	ENST00000215743.3	+	6	1112	c.1060A>G	c.(1060-1062)Att>Gtt	p.I354V		NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	354	Hemopexin-like 2.				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				CCAGGGCCACATTTGGTTCTT	0.622000													2	3					0	0	0.004672	0	0
C6	729	broad.mit.edu	37	5	41143053	41143053	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:41143053G>T	ENST00000263413.3	-	18	2943	c.2679C>A	c.(2677-2679)aaC>aaA	p.N893K	C6_ENST00000337836.5_Missense_Mutation_p.N893K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	893	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGTAGAGTTGGTTTCCACCCT	0.433000													17	117					9.16793e-09	1.235e-08	0.004990	1	0
OR4K2	390431	broad.mit.edu	37	14	20344724	20344724	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:20344724C>A	ENST00000298642.2	+	1	334	c.298C>A	c.(298-300)Cag>Aag	p.Q100K		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGCCTTACCCAGATATTCTT	0.418000													24	222					3.7963e-18	6.0171e-18	0.018920	1	0
CROCCP2	84809	broad.mit.edu	37	1	16958545	16958546	+	RNA	INS	-	-	C	rs113787707		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:16958545_16958546insC	ENST00000412962.1	-	0	74																											ggcctcagtttcccatccgtgt	0.550													3	3	---	---	---	---					
GJB5	2709	broad.mit.edu	37	1	35223024	35223024	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:35223024delC	ENST00000338513.1	+	2	266	c.93delC	c.(91-93)ttfs	p.F31fs		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	31					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TCTTCATCTTCCGCGTGCTGG	0.577													7	48	---	---	---	---					
AL592494.5	0	broad.mit.edu	37	1	121142104	121142106	+	RNA	DEL	GTG	GTG	-	rs28447658	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:121142104_121142106delGTG	ENST00000417218.1	+	0	551																											aaatgatgaagtgatgacatgaa	0.251													2	4	---	---	---	---					
LOC101927209	101927209	broad.mit.edu	37	1	142640998	142640999	+	RNA	DEL	AA	AA	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:142640998_142640999delAA	ENST00000369381.2	-	0	2507				RP11-417J8.3_ENST00000426408.1_lincRNA																							gcaacatggcaaaaccctctct	0.500													2	4	---	---	---	---					
PRCC	5546	broad.mit.edu	37	1	156756484	156756484	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:156756484delC	ENST00000271526.4	+	3	873	c.601delC	c.(601-603)ccfs	p.P201fs	PRCC_ENST00000353233.3_Frame_Shift_Del_p.P201fs|PRCC_ENST00000491853.1_3'UTR	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	201					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTTGCTCCTGCCCCATGCCTT	0.562			T	TFE3	papillary renal								15	172	---	---	---	---					
LINC00970	101978719	broad.mit.edu	37	1	168903070	168903070	+	RNA	DEL	T	T	-	rs60438736		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:168903070delT	ENST00000366408.3	-	0	209																											GTTTCAAGTCTTTTTTTTTTT	0.348													2	4	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176734924	176734924	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:176734924delG	ENST00000367662.3	+	15	5438	c.4274delG	c.(4273-4275)agfs	p.R1425fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1425	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACTTGTCAAAGGGGATTTGCC	0.522													15	76	---	---	---	---					
RP1-35C21.2	0	broad.mit.edu	37	1	177505669	177505669	+	RNA	DEL	A	A	-	rs35186147		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:177505669delA	ENST00000438575.1	-	0	296																											aacagagattaaaaaaaaaaa	0.353													2	4	---	---	---	---					
LOC101929565	101929565	broad.mit.edu	37	1	212723022	212723023	+	RNA	INS	-	-	TG	rs139681089	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:212723022_212723023insTG	ENST00000423842.1	+	0	72																											AGCTGCTAAACTGCCCTGAGGA	0.505													3	3	---	---	---	---					
PROX1-AS1	100505832	broad.mit.edu	37	1	214145072	214145073	+	RNA	INS	-	-	A	rs149568431		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:214145072_214145073insA	ENST00000601744.1	-	0	111				PROX1-AS1_ENST00000451396.2_RNA|PROX1-AS1_ENST00000598091.1_RNA|PROX1-AS1_ENST00000601854.1_RNA																							gactccatctgaaaaaaaaaaa	0.446													2	4	---	---	---	---					
LOC101929631	101929631	broad.mit.edu	37	1	218217904	218217905	+	RNA	INS	-	-	G	rs67972638	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:218217904_218217905insG	ENST00000456026.1	+	0	1058_1059																											CATGGAAGAGCTCACAGGAGAA	0.485													2	4	---	---	---	---					
RP11-278H7.4	0	broad.mit.edu	37	1	244246766	244246766	+	RNA	DEL	C	C	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:244246766delC	ENST00000441338.1	-	0	74																											AGGTGGAGCTCCAGATTCAGG	0.602													4	5	---	---	---	---					
OR2M7	391196	broad.mit.edu	37	1	248487588	248487588	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr1:248487588delC	ENST00000317965.2	-	1	311	c.283delG	c.(283-285)ctfs	p.A95fs		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCACAGCCAGCCATAGAAATG	0.483													22	294	---	---	---	---					
LOC400940	400940	broad.mit.edu	37	2	6087003	6087003	+	RNA	DEL	C	C	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:6087003delC	ENST00000431188.1	+	0	134																											ATCTTGAGGACCTGGAGATTT	0.552													2	4	---	---	---	---					
LOC100506457	100506457	broad.mit.edu	37	2	12207937	12207937	+	RNA	DEL	A	A	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:12207937delA	ENST00000412294.1	+	0	197																											GGCCCATAGTAGGATTCCAAG	0.468													2	4	---	---	---	---					
LOC100506457	100506457	broad.mit.edu	37	2	12241915	12241916	+	RNA	INS	-	-	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:12241915_12241916insG	ENST00000412294.1	+	0	197																											TGAGTGATGGTGGGGGCAGAGC	0.495													2	4	---	---	---	---					
DRC1	92749	broad.mit.edu	37	2	26644233	26644233	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:26644233delC	ENST00000288710.2	+	3	395	c.321delC	c.(319-321)cafs	p.H107fs		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		GAGAGATTCACAGGAGAGTCG	0.448													8	55	---	---	---	---					
AC073218.1	0	broad.mit.edu	37	2	34646719	34646719	+	RNA	DEL	G	G	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:34646719delG	ENST00000422558.1	+	0	475																											ATAAGAATTTGGGGGGGAAAG	0.398													2	4	---	---	---	---					
CYP1B1-AS1	285154	broad.mit.edu	37	2	38390587	38390587	+	RNA	DEL	T	T	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:38390587delT	ENST00000413828.2	+	0	190					NR_027252.1																						CTCTTGGGAGTTTTTTTTTTC	0.418													2	4	---	---	---	---					
AC010967.2	0	broad.mit.edu	37	2	53037299	53037299	+	RNA	DEL	T	T	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:53037299delT	ENST00000421575.1	-	0	119																											AATTGGTTTATAATAACTATA	0.299													2	4	---	---	---	---					
AC007131.2	0	broad.mit.edu	37	2	59611323	59611324	+	RNA	INS	-	-	TG	rs72413796	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:59611323_59611324insTG	ENST00000444001.2	-	0	474				RP11-444A22.1_ENST00000606382.1_lincRNA																							gtgtgcatgtatgtgtgtgtgt	0.366													4	4	---	---	---	---					
RP11-444A22.1	0	broad.mit.edu	37	2	59709596	59709596	+	RNA	DEL	T	T	-	rs71394451		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:59709596delT	ENST00000606382.1	-	0	433																											AAAACCTAAGTTTTTTTTTTT	0.318													6	3	---	---	---	---					
DYSF	8291	broad.mit.edu	37	2	71740450	71740450	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:71740450delC	ENST00000409582.3	+	6	815	c.538delC	c.(538-540)cgfs	p.P180fs	DYSF_ENST00000409744.1_Intron|DYSF_ENST00000409366.1_Intron|DYSF_ENST00000409651.1_Frame_Shift_Del_p.P181fs|DYSF_ENST00000413539.2_Frame_Shift_Del_p.P180fs|DYSF_ENST00000410020.3_Frame_Shift_Del_p.P181fs|DYSF_ENST00000410041.1_Frame_Shift_Del_p.P181fs|DYSF_ENST00000429174.2_Intron|DYSF_ENST00000394120.2_Intron|DYSF_ENST00000409762.1_Frame_Shift_Del_p.P180fs|DYSF_ENST00000258104.3_Intron	NM_001130981.1	NP_001124453.1	O75923	DYSF_HUMAN	dysferlin	152						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AAAGAAGTGGCCGGCCCCCAC	0.637													3	4	---	---	---	---					
ANKRD36BP2	645784	broad.mit.edu	37	2	89083543	89083543	+	RNA	DEL	G	G	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:89083543delG	ENST00000393525.3	+	0	576																											TACACCACATGGGTGTGAGAA	0.363													4	3	---	---	---	---					
ANKRD36BP2	645784	broad.mit.edu	37	2	89104503	89104504	+	RNA	INS	-	-	C	rs149625899	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:89104503_89104504insC	ENST00000393525.3	+	0	4868																											gtagatttttttcagattttgg	0.307													2	4	---	---	---	---					
AC096579.13	0	broad.mit.edu	37	2	89142579	89142579	+	RNA	DEL	A	A	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:89142579delA	ENST00000452230.1	-	0	39																											GGTAGGCATTAAGCCTCAGAA	0.438													2	4	---	---	---	---					
AC017074.2	0	broad.mit.edu	37	2	114450733	114450734	+	RNA	INS	-	-	TGTT	rs74991407	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:114450733_114450734insTGTT	ENST00000424612.1	-	0	382																											ttttgtgtgtgtgtttgtttgt	0.366													4	2	---	---	---	---					
AC097499.1	0	broad.mit.edu	37	2	126493080	126493080	+	RNA	DEL	G	G	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:126493080delG	ENST00000430692.1	+	0	402																											actgaaggaaggagaaatgag	0.408													2	4	---	---	---	---					
GALNT13	114805	broad.mit.edu	37	2	154801055	154801056	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:154801055_154801056delGA	ENST00000392825.3	+	3	612_613	c.45_46delGA	c.(43-48)cttgfs	p.LM15fs	GALNT13_ENST00000409237.1_Frame_Shift_Del_p.LM15fs	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	15						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CCACTTCGCTGATGTGGGTTCT	0.416													22	98	---	---	---	---					
AC009313.1	0	broad.mit.edu	37	2	161989310	161989310	+	RNA	DEL	A	A	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:161989310delA	ENST00000425470.1	-	0	165																											tacctgggtgaaaaaataatc	0.343													2	4	---	---	---	---					
AC092684.1	0	broad.mit.edu	37	2	164652763	164652764	+	RNA	INS	-	-	G	rs141228024		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:164652763_164652764insG	ENST00000429636.1	-	0	379																											tggagtgcagtgtgccatgtcg	0.510													2	4	---	---	---	---					
HAGLR	401022	broad.mit.edu	37	2	177048460	177048460	+	RNA	DEL	A	A	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:177048460delA	ENST00000417086.1	-	0	122				HOXD-AS1_ENST00000413969.1_RNA|HOXD-AS1_ENST00000425005.1_RNA|HOXD-AS1_ENST00000436126.1_RNA|HOXD-AS1_ENST00000452365.1_RNA																							AAGTCTTGTTAAAAAAAAAAA	0.473													2	4	---	---	---	---					
DNAH7	56171	broad.mit.edu	37	2	196774825	196774825	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:196774825delC	ENST00000312428.6	-	25	4130	c.4030delG	c.(4030-4032)ctfs	p.A1344fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1344	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGGCTACAGCTTTTGCCAAA	0.423													8	29	---	---	---	---					
AC007879.5	0	broad.mit.edu	37	2	208224250	208224250	+	RNA	DEL	A	A	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:208224250delA	ENST00000418850.1	-	0	400				AC007879.5_ENST00000412387.1_RNA																							ATATGTAATTAAAATACGTAA	0.318													2	4	---	---	---	---					
LINC00607	646324	broad.mit.edu	37	2	216559362	216559363	+	RNA	INS	-	-	A	rs59410509	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:216559362_216559363insA	ENST00000445174.1	-	0	723				AC012668.2_ENST00000417485.2_lincRNA	NR_037195.1																						acccagccttgaaaaaaaaaat	0.396													4	2	---	---	---	---					
AC098820.2	0	broad.mit.edu	37	2	217273250	217273251	+	RNA	INS	-	-	G	rs72531341	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:217273250_217273251insG	ENST00000457694.1	-	0	272																											GGGAAATCAATTTCTTCCACCT	0.530													2	4	---	---	---	---					
AC114765.1	0	broad.mit.edu	37	2	221110179	221110179	+	RNA	DEL	T	T	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr2:221110179delT	ENST00000432993.1	+	0	306																											ctcttagaggttaccaaagtc	0.453													2	4	---	---	---	---					
LMCD1-AS1	100288428	broad.mit.edu	37	3	8016837	8016838	+	RNA	INS	-	-	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:8016837_8016838insA	ENST00000441861.1	-	0	508				LMCD1-AS1_ENST00000446281.1_RNA																							acttcacctcgaaaaaaaaaaa	0.465													3	4	---	---	---	---					
RP11-58B17.2	0	broad.mit.edu	37	3	9540771	9540772	+	RNA	INS	-	-	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:9540771_9540772insG	ENST00000602693.1	-	0	481_482																											GGTCACAGTTAGGGGGGGACTT	0.604													2	4	---	---	---	---					
RP11-85I21.1	0	broad.mit.edu	37	3	67356234	67356234	+	RNA	DEL	A	A	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:67356234delA	ENST00000484222.1	+	0	1535																											AATTTTAGTTAAAAAAAAAAA	0.363													2	4	---	---	---	---					
SUCLG2-AS1	101927111	broad.mit.edu	37	3	67978306	67978306	+	RNA	DEL	T	T	-	rs145529019		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:67978306delT	ENST00000482677.1	+	0	1653																											CTTTTCACCATTTTTTTTTTT	0.483													3	3	---	---	---	---					
RP11-260O18.1	0	broad.mit.edu	37	3	82284257	82284257	+	RNA	DEL	G	G	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:82284257delG	ENST00000470263.1	+	0	472																											TAGAAAAGGAGCACTTCCTAA	0.328													4	3	---	---	---	---					
RP11-572M11.4	0	broad.mit.edu	37	3	112805893	112805894	+	RNA	INS	-	-	ACACAC	rs146100738	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:112805893_112805894insACACAC	ENST00000460707.1	+	0	390				RP11-572M11.4_ENST00000470313.1_RNA|RP11-572M11.4_ENST00000496389.1_RNA|RP11-572M11.4_ENST00000467342.1_RNA																							CTACTCCCCCAacacacacaca	0.460													3	4	---	---	---	---					
PTPLB	201562	broad.mit.edu	37	3	123219500	123219501	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:123219500_123219501delCT	ENST00000383657.5	-	6	700_701	c.543_544delAG	c.(541-546)tcgafs	p.SG181fs		NM_198402.3	NP_940684.1	Q6Y1H2	HACD2_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b	181					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein binding			kidney(2)	2				GBM - Glioblastoma multiforme(114;0.1)		AGCAGTTCTCCTGACACTCCCA	0.401													12	52	---	---	---	---					
LOC339874	339874	broad.mit.edu	37	3	131093098	131093099	+	RNA	INS	-	-	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:131093098_131093099insG	ENST00000502521.1	-	0	239					NR_038976.1																						aattaacatttgggggatattt	0.347													2	4	---	---	---	---					
NPHP3-AS1	348808	broad.mit.edu	37	3	132507528	132507529	+	RNA	INS	-	-	AAG	rs144148966	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:132507528_132507529insAAG	ENST00000504440.1	+	0	249					NR_002811.1																						AGAGGCTTTCAAAGGTTTTTCA	0.391													5	5	---	---	---	---					
NPHP3-AS1	348808	broad.mit.edu	37	3	132508695	132508696	+	RNA	INS	-	-	ATCTATCT	rs140458605	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:132508695_132508696insATCTATCT	ENST00000504440.1	+	0	249					NR_002811.1																						ATTTAGATAGAatctatctatc	0.347													2	4	---	---	---	---					
RP11-644C3.1	0	broad.mit.edu	37	3	176524836	176524837	+	RNA	INS	-	-	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr3:176524836_176524837insA	ENST00000428516.1	-	0	198																											CGTAAAGTATTAAAAAAaataa	0.332													2	4	---	---	---	---					
RP11-281P23.2	0	broad.mit.edu	37	4	11774885	11774885	+	RNA	DEL	A	A	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:11774885delA	ENST00000509244.1	+	0	288																											cttcagagctaataagaggaa	0.388													2	4	---	---	---	---					
RP11-496D24.2	0	broad.mit.edu	37	4	24668956	24668957	+	RNA	INS	-	-	AC	rs6839782	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:24668956_24668957insAC	ENST00000569621.1	+	0	188																											catgtatatatacacacacata	0.257													3	3	---	---	---	---					
LOC101928622	101928622	broad.mit.edu	37	4	33959412	33959412	+	RNA	DEL	T	T	-	rs143233495		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:33959412delT	ENST00000505018.1	-	0	307				RP11-79E3.2_ENST00000506650.1_lincRNA																							tcttgcattattttttttttt	0.363													3	4	---	---	---	---					
RP11-103J17.1	0	broad.mit.edu	37	4	37122002	37122010	+	RNA	DEL	CCGTGAGCT	CCGTGAGCT	-	rs138784049		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:37122002_37122010delCCGTGAGCT	ENST00000508199.1	+	0	133																											gtaggtaagaccgtgagctccagaagcaa	0.388													4	3	---	---	---	---					
RP11-63A11.1	0	broad.mit.edu	37	4	42301510	42301510	+	RNA	DEL	G	G	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:42301510delG	ENST00000503321.1	-	0	59				RP11-63A11.1_ENST00000508911.1_RNA																							tccactttgtggaagacactg	0.443													2	4	---	---	---	---					
UBA6-AS1	550112	broad.mit.edu	37	4	68914719	68914720	+	RNA	INS	-	-	C	rs138360054	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:68914719_68914720insC	ENST00000500538.2	+	0	1905																											cgcctcagcctccaaagtgcta	0.406													2	4	---	---	---	---					
RP11-567N4.3	0	broad.mit.edu	37	4	76335153	76335154	+	RNA	INS	-	-	T	rs1085523	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:76335153_76335154insT	ENST00000515230.1	+	0	193				RP11-567N4.2_ENST00000510744.1_lincRNA																							aaattttaggattttttttcta	0.302													2	4	---	---	---	---					
LINC01088	100505875	broad.mit.edu	37	4	79961961	79961961	+	RNA	DEL	A	A	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:79961961delA	ENST00000509088.1	+	0	182				RP11-438E5.1_ENST00000510667.1_RNA	NR_038342.1																						ttacctatataatatacctgc	0.348													2	4	---	---	---	---					
LINC01088	100505875	broad.mit.edu	37	4	80072810	80072810	+	RNA	DEL	T	T	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:80072810delT	ENST00000509088.1	+	0	349				RP11-438E5.1_ENST00000513153.1_RNA|RP11-438E5.1_ENST00000510667.1_RNA	NR_038342.1																						ttccaccgcctttgcaataat	0.413													2	4	---	---	---	---					
LINC01088	100505875	broad.mit.edu	37	4	80113388	80113388	+	RNA	DEL	T	T	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:80113388delT	ENST00000509088.1	+	0	349				RP11-438E5.1_ENST00000513153.1_RNA|RP11-438E5.1_ENST00000510667.1_RNA	NR_038342.1																						tcattgataattttttttttg	0.358													5	9	---	---	---	---					
RP11-125O18.1	0	broad.mit.edu	37	4	128361978	128361978	+	RNA	DEL	C	C	-	rs59193679	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:128361978delC	ENST00000504050.1	-	0	118																											caacctaagtccccattaatg	0.383													2	4	---	---	---	---					
RP11-422J15.1	0	broad.mit.edu	37	4	130701934	130701935	+	RNA	INS	-	-	T	rs5861925	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:130701934_130701935insT	ENST00000513875.1	+	0	119																											ACAACTTTCAATATTCACAATT	0.292													2	4	---	---	---	---					
RP11-400D2.3	0	broad.mit.edu	37	4	135351275	135351276	+	RNA	DEL	AG	AG	-	rs151201762		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:135351275_135351276delAG	ENST00000503009.1	+	0	90																											aacaggacacagaaaaaagaag	0.460													4	3	---	---	---	---					
RP11-775H9.2	0	broad.mit.edu	37	4	137102492	137102492	+	RNA	DEL	A	A	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:137102492delA	ENST00000513332.1	-	0	279																											acatatgcataagggggtact	0.294													2	4	---	---	---	---					
LOC728339	728339	broad.mit.edu	37	4	190818463	190818463	+	RNA	DEL	A	A	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr4:190818463delA	ENST00000511785.1	-	0	231																											ctgatgagctaaaaaaaaaaa	0.423													2	4	---	---	---	---					
LINC01019	285577	broad.mit.edu	37	5	3446822	3446824	+	RNA	DEL	TGA	TGA	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:3446822_3446824delTGA	ENST00000505443.1	-	0	459					NR_033898.1																						gtggtgatggtgatgatgatggt	0.473													5	6	---	---	---	---					
LOC285692	285692	broad.mit.edu	37	5	9880754	9880754	+	RNA	DEL	G	G	-	rs34366522		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:9880754delG	ENST00000511616.1	-	0	521				RP11-447B18.1_ENST00000508097.1_lincRNA	NR_027112.2																						aatgtctccaggcatttccaa	0.458													2	4	---	---	---	---					
RP11-549K20.1	0	broad.mit.edu	37	5	25145360	25145361	+	RNA	DEL	AA	AA	-	rs79717258		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:25145360_25145361delAA	ENST00000507600.1	-	0	280																											GAAACAAGGTAAAAAAAAAAAA	0.327													2	4	---	---	---	---					
CTD-2066L21.1	0	broad.mit.edu	37	5	33018340	33018341	+	RNA	INS	-	-	T	rs3068345		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:33018340_33018341insT	ENST00000511054.1	+	0	273																											GAGGCTTTCGGttttttttttt	0.455													3	5	---	---	---	---					
CTD-2066L21.3	0	broad.mit.edu	37	5	33112827	33112827	+	RNA	DEL	A	A	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:33112827delA	ENST00000510327.1	-	0	346																											ttattatattagctaggactt	0.289													2	4	---	---	---	---					
CTD-2023N9.2	0	broad.mit.edu	37	5	56871834	56871835	+	RNA	INS	-	-	G	rs142998836	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:56871834_56871835insG	ENST00000513392.1	+	0	74																											gatttaatcacgggggcggact	0.510													4	5	---	---	---	---					
LINC01331	104310351	broad.mit.edu	37	5	73676882	73676882	+	RNA	DEL	G	G	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:73676882delG	ENST00000507781.1	-	0	422																											aggccaaggtgggaggaacac	0.502													2	4	---	---	---	---					
MEF2C-AS1	101929423	broad.mit.edu	37	5	88281644	88281644	+	RNA	DEL	T	T	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:88281644delT	ENST00000511100.1	+	0	292				MEF2C-AS1_ENST00000508521.1_RNA|MEF2C-AS1_ENST00000512585.1_RNA|MEF2C-AS1_ENST00000514571.1_RNA|MEF2C-AS1_ENST00000514092.1_RNA																							CTTAGATGGGTTTTCATTCTA	0.353													2	4	---	---	---	---					
MEF2C-AS1	101929423	broad.mit.edu	37	5	88726002	88726002	+	RNA	DEL	A	A	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:88726002delA	ENST00000508742.1	+	0	86				MEF2C-AS1_ENST00000514092.1_RNA																							GATTTGTGACAATCCAATATG	0.348													2	4	---	---	---	---					
RP11-133F8.2	0	broad.mit.edu	37	5	91867527	91867528	+	RNA	INS	-	-	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:91867527_91867528insT	ENST00000512210.1	-	0	287																											ttccactctcattttttttttc	0.317													2	4	---	---	---	---					
LARS	51520	broad.mit.edu	37	5	145509688	145509688	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr5:145509688delC	ENST00000394434.2	-	25	2687	c.2521delG	c.(2521-2523)aafs	p.E841fs	LARS_ENST00000510191.1_Frame_Shift_Del_p.E787fs|LARS_ENST00000545646.1_Frame_Shift_Del_p.E795fs|LARS_ENST00000274562.9_Frame_Shift_Del_p.E814fs	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	841					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TGCATCCCTTCCACAGCCAAT	0.393													20	59	---	---	---	---					
RP11-716O23.1	0	broad.mit.edu	37	6	11425316	11425317	+	RNA	INS	-	-	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:11425316_11425317insA	ENST00000419796.1	+	0	230																											actaaaaatacaaaaaacagct	0.550													2	4	---	---	---	---					
RP1-209A6.1	0	broad.mit.edu	37	6	22760976	22760976	+	RNA	DEL	T	T	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:22760976delT	ENST00000420572.2	-	0	197																											ctctttgttgttttgacttgc	0.378													2	4	---	---	---	---					
BTN2A3P	54718	broad.mit.edu	37	6	26425702	26425702	+	RNA	DEL	A	A	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:26425702delA	ENST00000466808.2	+	0	785																											ctaaagcgggaagatctcttg	0.458													2	4	---	---	---	---					
GSTA9P	100174857	broad.mit.edu	37	6	52808592	52808593	+	RNA	DEL	CC	CC	-	rs10807458		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:52808592_52808593delCC	ENST00000448991.1	-	0	230																											cacacacacacCCCCCAATGTT	0.411													2	4	---	---	---	---					
LOC101927768	101927768	broad.mit.edu	37	6	114676133	114676133	+	RNA	DEL	C	C	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:114676133delC	ENST00000518470.1	+	0	291																											tactgtccggcatgtggtttt	0.443													3	4	---	---	---	---					
RP11-351A11.1	0	broad.mit.edu	37	6	119259661	119259662	+	RNA	INS	-	-	G	rs141212715	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:119259661_119259662insG	ENST00000518570.1	+	0	206																											gagagagacctggacagatccc	0.446													3	3	---	---	---	---					
LINC00271	100131814	broad.mit.edu	37	6	135879659	135879659	+	RNA	DEL	G	G	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:135879659delG	ENST00000421378.2	+	0	147					NR_026805.1																						TTTGTAGAAAGAGTCTATAGA	0.418													2	4	---	---	---	---					
RP11-631F7.1	0	broad.mit.edu	37	6	148570357	148570357	+	RNA	DEL	C	C	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr6:148570357delC	ENST00000423268.1	-	0	205																											CAGTGGATGACAATTTTGCTA	0.373													2	4	---	---	---	---					
AC004009.3	0	broad.mit.edu	37	7	27446565	27446566	+	RNA	INS	-	-	GATGT	rs149252430	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:27446565_27446566insGATGT	ENST00000412413.1	+	0	399																											aggagtccagggagcagcctct	0.550													2	4	---	---	---	---					
AC004901.1	0	broad.mit.edu	37	7	47030759	47030760	+	RNA	INS	-	-	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:47030759_47030760insA	ENST00000433337.1	-	0	237																											tgatttttaagaaaaaaagaaa	0.381													2	4	---	---	---	---					
INTS4P1	285905	broad.mit.edu	37	7	64675326	64675328	+	RNA	DEL	GTT	GTT	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:64675326_64675328delGTT	ENST00000587624.1	+	0	1437																											ccagtctatcgttgttgggcatt	0.394													2	4	---	---	---	---					
LINC00174	285908	broad.mit.edu	37	7	65850855	65850855	+	RNA	DEL	T	T	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:65850855delT	ENST00000421767.1	-	0	547					NR_026873.1																						cctcagcaccttggccaactc	0.502													2	4	---	---	---	---					
STEAP2-AS1	100874100	broad.mit.edu	37	7	89569689	89569690	+	RNA	INS	-	-	A	rs141132740	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:89569689_89569690insA	ENST00000478318.2	-	0	424																											aggtggtggtgaaattgggaat	0.317													3	4	---	---	---	---					
LOC101927497	101927497	broad.mit.edu	37	7	92505221	92505221	+	RNA	DEL	T	T	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:92505221delT	ENST00000419668.1	+	0	189				AC002454.1_ENST00000424523.1_RNA|AC002454.1_ENST00000435695.1_RNA|AC002454.1_ENST00000452050.1_RNA																							tgtttttttgttttttttttt	0.522													2	4	---	---	---	---					
RP11-44M6.1	0	broad.mit.edu	37	7	100111093	100111093	+	RNA	DEL	T	T	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:100111093delT	ENST00000392471.2	+	0	240																											ataactacagttttttttttt	0.512													3	4	---	---	---	---					
RP11-736E3.1	0	broad.mit.edu	37	7	112770547	112770548	+	RNA	INS	-	-	A	rs147614575	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:112770547_112770548insA	ENST00000441928.1	+	0	273																											TATTTAACAACAAAAAAAAAAT	0.297													2	4	---	---	---	---					
AC003084.2	0	broad.mit.edu	37	7	117640907	117640907	+	RNA	DEL	G	G	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:117640907delG	ENST00000427030.1	-	0	154																											GGCAGGTACAGGGGGATTTGC	0.547													2	4	---	---	---	---					
AC009784.3	0	broad.mit.edu	37	7	135916648	135916648	+	RNA	DEL	T	T	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:135916648delT	ENST00000445293.2	+	0	392																											CTATCTTGAGTTTTTAGGGAG	0.348													2	4	---	---	---	---					
C7orf13	129790	broad.mit.edu	37	7	156282256	156282263	+	RNA	DEL	GATGGATG	GATGGATG	-	rs151335305	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr7:156282256_156282263delGATGGATG	ENST00000447933.1	-	0	300																											caatagaggagatggatggatggatgga	0.365													3	3	---	---	---	---					
RP11-624C23.1	0	broad.mit.edu	37	8	24296795	24296796	+	RNA	INS	-	-	A	rs138061166		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:24296795_24296796insA	ENST00000519689.1	-	0	184				RP11-624C23.1_ENST00000523578.1_RNA																							ATAATGGAGGCAAAAAAAAAAA	0.376													4	3	---	---	---	---					
RP11-11N9.4	0	broad.mit.edu	37	8	32901241	32901242	+	RNA	DEL	AC	AC	-	rs113194081		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:32901241_32901242delAC	ENST00000500843.2	+	0	248																											GGAAATGCAAACACACACACAC	0.332													2	4	---	---	---	---					
RP11-359E19.1	0	broad.mit.edu	37	8	39962682	39962683	+	RNA	INS	-	-	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:39962682_39962683insA	ENST00000524098.1	+	0	134																											acatttttgttaaaaactaaga	0.337													2	4	---	---	---	---					
RP11-10H3.1	0	broad.mit.edu	37	8	50097355	50097356	+	RNA	INS	-	-	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:50097355_50097356insA	ENST00000518222.1	+	0	271																											CCACAGAGTGCCAACATCCAGG	0.436													3	4	---	---	---	---					
XKR4	114786	broad.mit.edu	37	8	56442722	56442722	+	RNA	DEL	G	G	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:56442722delG	ENST00000518261.1	+	0	565																											aaggaaggaaggaaggaagga	0.408													4	3	---	---	---	---					
RP11-388G22.1	0	broad.mit.edu	37	8	58673887	58673887	+	RNA	DEL	A	A	-	rs75571209		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:58673887delA	ENST00000520426.1	-	0	273																											tctcaaaattaaaaaaaaaaa	0.343													4	2	---	---	---	---					
RP11-326E22.1	0	broad.mit.edu	37	8	72088084	72088085	+	RNA	INS	-	-	T	rs113950554		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:72088084_72088085insT	ENST00000521685.1	+	0	166																											GTTTCTTCCTCTTTTTTTTTTT	0.361													3	3	---	---	---	---					
RP11-3N13.2	0	broad.mit.edu	37	8	75807456	75807457	+	RNA	INS	-	-	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:75807456_75807457insA	ENST00000520696.1	-	0	578																											gacagagcaagaaaaaaaaatc	0.465													3	6	---	---	---	---					
CASC9	101805492	broad.mit.edu	37	8	76178613	76178613	+	RNA	DEL	T	T	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:76178613delT	ENST00000504531.2	-	0	209																											ctttggttcattttttttaat	0.338													2	4	---	---	---	---					
LINC01111	101926978	broad.mit.edu	37	8	77432704	77432705	+	RNA	DEL	TA	TA	-	rs139850101		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:77432704_77432705delTA	ENST00000518732.1	+	0	501				ZFHX4-AS1_ENST00000522961.1_RNA																							tggtttgaggtatatggatccc	0.411													6	0	---	---	---	---					
ZFHX4-AS1	100192378	broad.mit.edu	37	8	77510052	77510052	+	RNA	DEL	A	A	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:77510052delA	ENST00000522961.1	-	0	105																											agactccgtcaaaaaaaaaaa	0.502													3	4	---	---	---	---					
ZFHX4	79776	broad.mit.edu	37	8	77764407	77764407	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:77764407delG	ENST00000521891.2	+	10	5698	c.5250delG	c.(5248-5250)ttfs	p.L1750fs	ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.L1705fs|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.L1724fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.L1705fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1705	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGTTCAGCTTGGGGCCAGATT	0.502										HNSCC(33;0.089)			12	135	---	---	---	---					
RP11-157I4.4	0	broad.mit.edu	37	8	82403665	82403666	+	RNA	INS	-	-	C	rs6473278	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:82403665_82403666insC	ENST00000524085.2	+	0	298																											ttcttcttctttttttttgtag	0.441													2	4	---	---	---	---					
LOC101927141	101927141	broad.mit.edu	37	8	83850791	83850792	+	RNA	INS	-	-	A	rs148727636	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:83850791_83850792insA	ENST00000522123.1	-	0	57				CTD-2272D18.1_ENST00000524359.1_lincRNA																							ctgcaaaaaagaaaaaaaaaag	0.366													3	3	---	---	---	---					
RP11-120I21.2	0	broad.mit.edu	37	8	84967676	84967676	+	RNA	DEL	G	G	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:84967676delG	ENST00000523678.1	+	0	184																											aagcttccctggacctccagc	0.423													2	4	---	---	---	---					
LINC00534	100874052	broad.mit.edu	37	8	91323554	91323555	+	RNA	INS	-	-	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:91323554_91323555insG	ENST00000523406.1	+	0	300					NR_051989.1																						gctctctacttggggggtcagc	0.406													2	4	---	---	---	---					
RP11-122C21.1	0	broad.mit.edu	37	8	92727713	92727713	+	RNA	DEL	T	T	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:92727713delT	ENST00000518416.1	-	0	415																											TTAACAATTATTTGTATCTCT	0.398													2	4	---	---	---	---					
C8orf37-AS1	100616530	broad.mit.edu	37	8	96505389	96505390	+	RNA	DEL	AC	AC	-	rs5893337		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:96505389_96505390delAC	ENST00000521905.1	+	0	281																											GGTGGCCTGTacacacacacac	0.490													3	5	---	---	---	---					
LOC101927172	101927172	broad.mit.edu	37	8	102488382	102488389	+	RNA	DEL	AAACAAAC	AAACAAAC	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:102488382_102488389delAAACAAAC	ENST00000520268.1	-	0	50																											ctctgtctcaaaacaaacaaacaaacaa	0.442													3	3	---	---	---	---					
KB-1507C5.4	0	broad.mit.edu	37	8	103998296	103998297	+	RNA	DEL	AA	AA	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:103998296_103998297delAA	ENST00000517983.1	+	0	171																											tctccatcacaaaaaaaaaaaa	0.406													2	4	---	---	---	---					
RP11-89K10.1	0	broad.mit.edu	37	8	127669571	127669573	+	RNA	DEL	CCC	CCC	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:127669571_127669573delCCC	ENST00000519880.1	+	0	156				RP11-89K10.1_ENST00000520512.1_RNA																							gagggggtttccccttctttgtt	0.409													3	3	---	---	---	---					
LINC01591	286094	broad.mit.edu	37	8	136283822	136283822	+	RNA	DEL	G	G	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:136283822delG	ENST00000522279.1	+	0	384					NR_026706.1																						TGGGTAggccgggcgcggtgg	0.522													3	5	---	---	---	---					
LOC401478	401478	broad.mit.edu	37	8	138842530	138842542	+	RNA	DEL	TGGGGCCATTTTA	TGGGGCCATTTTA	-	rs140519175		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr8:138842530_138842542delTGGGGCCATTTTA	ENST00000518973.1	-	0	680																											gagatgggggtggggccattttataggatttgg	0.507													7	4	---	---	---	---					
LINC01410	103352539	broad.mit.edu	37	9	66469204	66469204	+	RNA	DEL	G	G	-	rs1047837	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr9:66469204delG	ENST00000424345.1	+	0	2771																											CAATATAATTGCCTTCTTGTA	0.313													3	4	---	---	---	---					
RP11-764K9.1	0	broad.mit.edu	37	9	68401527	68401527	+	RNA	DEL	C	C	-	rs111275793	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr9:68401527delC	ENST00000417843.2	-	0	292																											TAAGCACTTTCTTTCTAGCTG	0.413													2	4	---	---	---	---					
LOC440896	440896	broad.mit.edu	37	9	70940393	70940394	+	RNA	DEL	GA	GA	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr9:70940393_70940394delGA	ENST00000429953.2	+	0	1559																											tgatgataaggagagagtctgc	0.411													3	3	---	---	---	---					
LOC101927502	101927502	broad.mit.edu	37	9	84388589	84388589	+	RNA	DEL	T	T	-	rs11139410		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr9:84388589delT	ENST00000437181.1	+	0	486																											TGCCAtttccttttttttttt	0.582													2	4	---	---	---	---					
LOC101928438	101928438	broad.mit.edu	37	9	102481342	102481343	+	RNA	DEL	CA	CA	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr9:102481342_102481343delCA	ENST00000427039.1	-	0	190																											cacacatatgcacacacacaca	0.337													3	5	---	---	---	---					
RP11-343J18.2	0	broad.mit.edu	37	9	128901763	128901764	+	RNA	DEL	TC	TC	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr9:128901763_128901764delTC	ENST00000441473.1	+	0	235																											tctctctctttctctctctctc	0.436													2	4	---	---	---	---					
LOC101927964	101927964	broad.mit.edu	37	10	4114678	4114679	+	RNA	INS	-	-	A	rs35855641		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr10:4114678_4114679insA	ENST00000455199.1	+	0	432																											gactctgtctcaaaaaaaaaaa	0.426													2	4	---	---	---	---					
RP11-543F8.2	0	broad.mit.edu	37	10	8488455	8488455	+	RNA	DEL	G	G	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr10:8488455delG	ENST00000413286.1	+	0	141																											CAAGATGGGAGGGGCAGAAAC	0.468													3	5	---	---	---	---					
RP1-251M9.2	0	broad.mit.edu	37	10	11004058	11004059	+	RNA	INS	-	-	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr10:11004058_11004059insA	ENST00000420825.1	+	0	213																											gggagggagggaggagggagag	0.510													2	4	---	---	---	---					
RP11-351M16.3	0	broad.mit.edu	37	10	28775314	28775315	+	RNA	INS	-	-	TTTGTTTG	rs77555603		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr10:28775314_28775315insTTTGTTTG	ENST00000421132.1	-	0	93																											ctgtctAgttttttgtttgttt	0.515													2	4	---	---	---	---					
RP11-163F15.1	0	broad.mit.edu	37	10	110318965	110318966	+	RNA	INS	-	-	T	rs145618507	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr10:110318965_110318966insT	ENST00000366253.2	-	0	139																											cagcaggataatttttttttta	0.520													3	3	---	---	---	---					
CTD-3138F19.1	0	broad.mit.edu	37	11	29876796	29876797	+	RNA	INS	-	-	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:29876796_29876797insA	ENST00000530249.1	+	0	343																											aaacgctgctgaaaatatgcat	0.317													2	4	---	---	---	---					
LOC101927120	101927120	broad.mit.edu	37	11	56629263	56629263	+	RNA	DEL	A	A	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:56629263delA	ENST00000526436.1	+	0	48																											gtaagaatacaaaggagttcc	0.393													2	4	---	---	---	---					
LOC283194	283194	broad.mit.edu	37	11	58821526	58821526	+	RNA	DEL	T	T	-	rs113087473		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:58821526delT	ENST00000533954.1	-	0	288				RP11-142C4.6_ENST00000532098.1_RNA	NR_033853.1																						ttttttcgtgttttttttttt	0.498													3	5	---	---	---	---					
DISC1FP1	101929222	broad.mit.edu	37	11	90285905	90285905	+	RNA	DEL	T	T	-	rs145773505		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:90285905delT	ENST00000562678.1	+	0	185																											TCCACAACAGTTTTTTTTTTT	0.328													2	4	---	---	---	---					
RP11-563P16.1	0	broad.mit.edu	37	11	103708656	103708657	+	RNA	INS	-	-	C	rs111555349	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:103708656_103708657insC	ENST00000533459.1	-	0	127																											aaaaaaaaaaacccagatgctg	0.351													2	4	---	---	---	---					
LOC101929011	101929011	broad.mit.edu	37	11	116522224	116522224	+	RNA	DEL	T	T	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:116522224delT	ENST00000444123.1	+	0	116																											GAGTGAAGGCTTTTTTTTTTC	0.572													3	4	---	---	---	---					
TMPRSS4-AS1	100526771	broad.mit.edu	37	11	117933839	117933839	+	RNA	DEL	G	G	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:117933839delG	ENST00000606951.1	-	0	43				TMPRSS4-AS1_ENST00000527695.1_RNA|TMPRSS4-AS1_ENST00000527329.1_RNA	NR_038318.1																						atatcatcaagaaataaccat	0.398													3	3	---	---	---	---					
LOC101929473	101929473	broad.mit.edu	37	11	126968230	126968231	+	RNA	DEL	CA	CA	-	rs72363253		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr11:126968230_126968231delCA	ENST00000527317.1	+	0	116																											TGTGcacatgcacacacacaca	0.386													2	4	---	---	---	---					
LINC00940	100271702	broad.mit.edu	37	12	2042156	2042157	+	RNA	INS	-	-	GT	rs58380439		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:2042156_2042157insGT	ENST00000418006.1	-	0	121					NR_036546.1																						cgtatgtgtacgtgtgaatgta	0.416													2	4	---	---	---	---					
LOC100506393	100506393	broad.mit.edu	37	12	20222039	20222039	+	RNA	DEL	A	A	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:20222039delA	ENST00000536666.1	+	0	314					NR_040098.1																						aatggaaaacaaaaaaaaagc	0.358													2	4	---	---	---	---					
RP11-444D3.1	0	broad.mit.edu	37	12	24673437	24673438	+	RNA	INS	-	-	A	rs11369294	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:24673437_24673438insA	ENST00000538905.1	-	0	45																											agataaacagtaaaaaaaaaca	0.282													3	3	---	---	---	---					
OVCH1	341350	broad.mit.edu	37	12	29617462	29617462	+	Frame_Shift_Del	DEL	G	G	-	rs117919494	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:29617462delG	ENST00000318184.5	-	18	2102	c.2103delC	c.(2101-2103)acfs	p.T701fs	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	701	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTCCCCATCCGGTCACAGCAC	0.443													19	29	---	---	---	---					
RP11-478B9.1	0	broad.mit.edu	37	12	45486873	45486874	+	RNA	INS	-	-	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:45486873_45486874insA	ENST00000548424.1	+	0	448																											ATGTCTACCCCAAGCTATTTAA	0.470													2	4	---	---	---	---					
RP11-616L12.1	0	broad.mit.edu	37	12	55406661	55406661	+	RNA	DEL	A	A	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:55406661delA	ENST00000547559.1	+	0	362																											actttttgggaactggagcaa	0.443													2	4	---	---	---	---					
RP11-314D7.4	0	broad.mit.edu	37	12	74244455	74244455	+	RNA	DEL	A	A	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:74244455delA	ENST00000549058.1	-	0	60																											AAGGAAGCAGAAAATAACAAT	0.328													2	4	---	---	---	---					
RP11-13A1.3	0	broad.mit.edu	37	12	89644957	89644957	+	RNA	DEL	T	T	-	rs71448749		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:89644957delT	ENST00000549278.1	-	0	144																											GCCACCACTGTtagaaaaagc	0.383													4	2	---	---	---	---					
LOC101928617	101928617	broad.mit.edu	37	12	92567449	92567449	+	RNA	DEL	A	A	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:92567449delA	ENST00000499685.2	+	0	164																											ctctacaaagaaaaaaaaaag	0.378													3	3	---	---	---	---					
RP11-897M7.1	0	broad.mit.edu	37	12	131962242	131962243	+	RNA	INS	-	-	ATA			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr12:131962242_131962243insATA	ENST00000535133.1	-	0	195																											tggtaatggtggtgatgatggt	0.386													2	4	---	---	---	---					
RNF219-AS1	100874222	broad.mit.edu	37	13	78928054	78928055	+	RNA	INS	-	-	G			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr13:78928054_78928055insG	ENST00000607862.1	+	0	315				RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000606803.1_RNA|RNF219-AS1_ENST00000605996.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000606187.1_RNA																							gagggatggatgggggggtgga	0.371													2	4	---	---	---	---					
RNF219-AS1	100874222	broad.mit.edu	37	13	79035330	79035330	+	RNA	DEL	A	A	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr13:79035330delA	ENST00000607862.1	+	0	315				RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000606803.1_RNA|RNF219-AS1_ENST00000605996.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA																							tccctgatataaaaaagcaga	0.413													2	4	---	---	---	---					
METTL21EP	121952	broad.mit.edu	37	13	103535137	103535137	+	RNA	DEL	C	C	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr13:103535137delC	ENST00000605100.1	+	0	194					NR_026965.1																						CAGCCTCTCTCCAGCTGTTAG	0.453													2	4	---	---	---	---					
LOC101927062	101927062	broad.mit.edu	37	14	27269445	27269445	+	RNA	DEL	G	G	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:27269445delG	ENST00000549330.1	-	0	292				NOVA1-AS1_ENST00000552826.1_RNA|NOVA1-AS1_ENST00000552101.1_RNA|NOVA1-AS1_ENST00000548328.1_RNA																							TAAAATACCTGGAATACTTTA	0.338													2	4	---	---	---	---					
RP11-596D21.1	0	broad.mit.edu	37	14	31748904	31748905	+	RNA	INS	-	-	A	rs78608361		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:31748904_31748905insA	ENST00000551799.1	+	0	400																											aattccatctcaaaaaaaaaaa	0.401													2	4	---	---	---	---					
CTD-2058B24.2	0	broad.mit.edu	37	14	38531526	38531526	+	RNA	DEL	T	T	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:38531526delT	ENST00000554687.1	-	0	200				CTD-2058B24.2_ENST00000555342.1_RNA																							tcacattatcttttttttttc	0.403													2	4	---	---	---	---					
RP11-305B6.3	0	broad.mit.edu	37	14	44668794	44668797	+	RNA	DEL	AAAG	AAAG	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:44668794_44668797delAAAG	ENST00000553827.1	-	0	69																											agaaggaagtaaagaaAGGCCAGC	0.353													3	4	---	---	---	---					
LINC00871	100506412	broad.mit.edu	37	14	46850721	46850722	+	RNA	INS	-	-	A	rs112666037		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:46850721_46850722insA	ENST00000556886.1	+	0	232					NR_102701.1																						tttccaagagcaaaaaaaaaaa	0.391													4	3	---	---	---	---					
RP11-218E20.3	0	broad.mit.edu	37	14	51427522	51427522	+	RNA	DEL	C	C	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:51427522delC	ENST00000553648.2	-	0	357																											caaacactgtccaagggaatt	0.438													2	4	---	---	---	---					
LINC01500	102723742	broad.mit.edu	37	14	59329178	59329178	+	RNA	DEL	G	G	-	rs33940267		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:59329178delG	ENST00000553762.1	+	0	322																											GACTGCCTGAGGAGAAAAGTG	0.428													4	4	---	---	---	---					
RP11-1042B17.3	0	broad.mit.edu	37	14	61010293	61010293	+	RNA	DEL	A	A	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:61010293delA	ENST00000557618.1	+	0	186																											cccccaatccagtattctttt	0.473													4	6	---	---	---	---					
GPATCH2L	55668	broad.mit.edu	37	14	76719240	76719240	+	RNA	DEL	A	A	-	rs34646927		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:76719240delA	ENST00000554225.1	+	0	245																											GGCCAGTATGAAAAACTAAGT	0.353													3	3	---	---	---	---					
RP11-666E17.1	0	broad.mit.edu	37	14	82405836	82405836	+	RNA	DEL	T	T	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:82405836delT	ENST00000554814.1	+	0	315																											caaagtgccattttttttttt	0.373													2	4	---	---	---	---					
RP11-666E17.1	0	broad.mit.edu	37	14	82473511	82473511	+	RNA	DEL	T	T	-	rs140732949		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:82473511delT	ENST00000554814.1	+	0	315																											AGACATGAGCTTTTTTTTTGT	0.388													2	4	---	---	---	---					
RP11-1070N10.5	0	broad.mit.edu	37	14	96092244	96092245	+	RNA	INS	-	-	AG			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr14:96092244_96092245insAG	ENST00000555032.1	+	0	120																											ggtggcagtcaagagagaagtg	0.475													2	4	---	---	---	---					
LOC100128714	100128714	broad.mit.edu	37	15	26164309	26164310	+	RNA	INS	-	-	T	rs72519135	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr15:26164309_26164310insT	ENST00000383019.2	+	0	207					NR_040082.1																						ttccctgatgattagtgatgtt	0.297													5	1	---	---	---	---					
AC009878.2	0	broad.mit.edu	37	15	26661270	26661271	+	RNA	INS	-	-	ACACACAC	rs60719081	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr15:26661270_26661271insACACACAC	ENST00000451579.1	+	0	173																											cacaaatggaaacacacacaca	0.381													3	4	---	---	---	---					
RP11-208K4.1	0	broad.mit.edu	37	15	48279247	48279247	+	RNA	DEL	A	A	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr15:48279247delA	ENST00000560900.1	+	0	195																											GGTTCAGAGTAAATGCAGGGA	0.353													2	4	---	---	---	---					
RP11-19N8.4	0	broad.mit.edu	37	16	33091102	33091102	+	RNA	DEL	A	A	-	rs78820329		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr16:33091102delA	ENST00000561541.1	-	0	291																											gcattatgccagctgaaagaa	0.323													3	4	---	---	---	---					
FLJ26245	400533	broad.mit.edu	37	16	34982890	34982891	+	RNA	INS	-	-	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr16:34982890_34982891insC	ENST00000516580.1	+	0	0_1																											GCTACACCCCTCCCCCCGTGGA	0.614													2	4	---	---	---	---					
CES3	23491	broad.mit.edu	37	16	67006337	67006340	+	Frame_Shift_Del	DEL	AGGC	AGGC	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr16:67006337_67006340delAGGC	ENST00000303334.4	+	11	1441_1444	c.1370_1373delAGGC	c.(1369-1374)atfs	p.KA457fs	CES3_ENST00000543856.1_Frame_Shift_Del_p.KA96fs|CES3_ENST00000394037.1_Frame_Shift_Del_p.KA457fs	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	457						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GCCTGGGTGAAGGCTGATCATGGG	0.534													15	122	---	---	---	---					
LINC01081	101154687	broad.mit.edu	37	16	86276207	86276208	+	RNA	INS	-	-	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr16:86276207_86276208insC	ENST00000597373.1	-	0	123																											GACCACCCTTGCCCCCAACCCC	0.584													2	4	---	---	---	---					
RPH3AL	9501	broad.mit.edu	37	17	203333	203333	+	RNA	DEL	A	A	-	rs11356209		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:203333delA	ENST00000572499.1	+	0	225																											CCAAGGAGCCAGGGGTGTGGA	0.552													2	4	---	---	---	---					
HS3ST3A1	9955	broad.mit.edu	37	17	13399670	13399671	+	Frame_Shift_Ins	INS	-	-	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:13399670_13399671insT	ENST00000284110.1	-	2	1861_1862	c.1064_1065insA	c.(1063-1065)ggafs	p.G355fs	HS3ST3A1_ENST00000578576.1_Frame_Shift_Ins_p.G153fs	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	355						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGCTGCCCTCCGCCTTCTTCAG	0.634													8	18	---	---	---	---					
AC004702.2	0	broad.mit.edu	37	17	20223432	20223433	+	RNA	INS	-	-	T			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:20223432_20223433insT	ENST00000580225.1	+	0	105																											tGCCttctttctttttttgaga	0.485													2	4	---	---	---	---					
STAT3	6774	broad.mit.edu	37	17	40481632	40481633	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:40481632_40481633delTG	ENST00000264657.5	-	13	1484_1485	c.1172_1173delCA	c.(1171-1173)afs	p.T391fs	STAT3_ENST00000404395.3_Frame_Shift_Del_p.T391fs|STAT3_ENST00000389272.3_Frame_Shift_Del_p.T293fs|STAT3_ENST00000585517.1_Frame_Shift_Del_p.T391fs|STAT3_ENST00000588969.1_Frame_Shift_Del_p.T391fs	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	391					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TCATCACTTTTGTGTTTGTGCC	0.470									Hyperimmunoglobulin E Recurrent Infection Syndrome				14	45	---	---	---	---					
SP2-AS1	100506325	broad.mit.edu	37	17	46013912	46013912	+	RNA	DEL	A	A	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr17:46013912delA	ENST00000411573.2	-	0	24				AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000451140.2_RNA																							gcatgcctgtaatcccagcta	0.517													2	4	---	---	---	---					
RP11-795H16.3	0	broad.mit.edu	37	18	57796447	57796448	+	RNA	INS	-	-	AGTA			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr18:57796447_57796448insAGTA	ENST00000588794.1	+	0	190																											GGGTCAGAACTAGTAAGTATTT	0.267													2	4	---	---	---	---					
RP11-325K19.1	0	broad.mit.edu	37	18	58532127	58532127	+	RNA	DEL	C	C	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr18:58532127delC	ENST00000591869.1	-	0	38																											TTAGAAAGAGCAACTAGTATA	0.299													2	4	---	---	---	---					
CTC-400I9.3	0	broad.mit.edu	37	19	31443095	31443098	+	RNA	DEL	CTTT	CTTT	-	rs12459562	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr19:31443095_31443098delCTTT	ENST00000587702.1	+	0	92																											tccttccttcctttcttctttcct	0.495													8	18	---	---	---	---					
CTC-360P9.4	0	broad.mit.edu	37	19	32496084	32496085	+	RNA	INS	-	-	AA	rs10694296	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr19:32496084_32496085insAA	ENST00000590053.1	-	0	112																											TTTTTTTAAACAGAAAATAGAT	0.431													6	3	---	---	---	---					
ZNF607	84775	broad.mit.edu	37	19	38189751	38189751	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr19:38189751delC	ENST00000355202.4	-	5	1876	c.1281delG	c.(1279-1281)ggfs	p.G427fs	ZNF607_ENST00000395835.3_Frame_Shift_Del_p.G426fs|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TGAAGGCCTTCCCACATTCCT	0.403													17	29	---	---	---	---					
MARK4	57787	broad.mit.edu	37	19	45748471	45748472	+	RNA	INS	-	-	C			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr19:45748471_45748472insC	ENST00000590022.1	-	0	30																											TTCTCTCTTTGCCCCCAGCCTC	0.574													2	4	---	---	---	---					
SIGLEC8	27181	broad.mit.edu	37	19	51958819	51958819	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr19:51958819delG	ENST00000321424.3	-	4	970	c.904delC	c.(904-906)tgfs	p.L302fs	SIGLEC8_ENST00000340550.5_Frame_Shift_Del_p.L209fs|SIGLEC8_ENST00000430817.1_Frame_Shift_Del_p.L193fs	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	302	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GAGGGGCACAGGGTCAGGCTC	0.632													8	19	---	---	---	---					
RP4-610C12.1	0	broad.mit.edu	37	20	29583616	29583617	+	RNA	INS	-	-	A	rs149569779		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr20:29583616_29583617insA	ENST00000432067.1	-	0	288																											CTGACAATGCCAATTTTTTAAC	0.213													3	4	---	---	---	---					
RP4-610C12.1	0	broad.mit.edu	37	20	29595845	29595845	+	RNA	DEL	A	A	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr20:29595845delA	ENST00000432067.1	-	0	74																											acacagtgagaccttgtccct	0.473													4	8	---	---	---	---					
ZNF663P	100130934	broad.mit.edu	37	20	45076024	45076025	+	RNA	INS	-	-	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr20:45076024_45076025insA	ENST00000400371.2	-	0	1985																											ggagacagaggaaaaaaaaatc	0.322													2	4	---	---	---	---					
PARD6B	84612	broad.mit.edu	37	20	49373241	49373242	+	Frame_Shift_Ins	INS	-	-	A			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr20:49373241_49373242insA	ENST00000396039.1	+	3	431_432	c.309_310insA	c.(307-312)tcaaaafs	p.SK103fs				Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	0					axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						TGGAACATTCCAAAAACAATGT	0.347													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11032608	11032608	+	RNA	DEL	T	T	-	rs2257758		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr21:11032608delT	ENST00000470054.1	-	0	1476									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTTAAATTCTTTTTAGTCAA	0.289													4	8	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11069012	11069013	+	RNA	INS	-	-	C	rs150046862		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr21:11069012_11069013insC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tttttcaacttcaaaaaattaa	0.272													3	5	---	---	---	---					
CHODL-AS1	54075	broad.mit.edu	37	21	19256979	19256979	+	RNA	DEL	A	A	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr21:19256979delA	ENST00000447175.1	-	0	147					NR_024354.1																						CGCATGGTATAATTCTTTAAA	0.313													2	4	---	---	---	---					
B3GALT5	10317	broad.mit.edu	37	21	41041849	41041849	+	RNA	DEL	T	T	-			TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr21:41041849delT	ENST00000416555.1	+	0	220																											CTTCTGTCACTTTTTTTTTTC	0.502													3	5	---	---	---	---					
LOC101929374	101929374	broad.mit.edu	37	22	23800826	23800826	+	RNA	DEL	G	G	-	rs115812987	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr22:23800826delG	ENST00000454268.1	+	0	205																											GCAGGGCCTCGGGGGCAGCAC	0.677													2	4	---	---	---	---					
CRYBB2P1	1416	broad.mit.edu	37	22	25855708	25855709	+	RNA	INS	-	-	GC	rs147049917	by1000genomes	TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr22:25855708_25855709insGC	ENST00000354451.2	+	0	366																											tgtgtgtgtgtgcgtgcgtgtg	0.500													4	6	---	---	---	---					
CTA-929C8.5	0	broad.mit.edu	37	22	27673769	27673769	+	RNA	DEL	T	T	-	rs144743887		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr22:27673769delT	ENST00000449126.1	+	0	105																											TCTTGGTTGATTTTTTTTTTT	0.403													2	4	---	---	---	---					
EP300-AS1	101927279	broad.mit.edu	37	22	41586193	41586193	+	RNA	DEL	A	A	-	rs150908685		TCGA-17-Z028-01A-01W-0746-08	TCGA-17-Z028-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f55fb6e-342a-41e0-9a8e-7c5156c95eaa	db39d913-94bb-4e90-8fea-7b6080f9303e	g.chr22:41586193delA	ENST00000420537.1	-	0	223																											CTTCAAAGGCaaaaaaaaaaa	0.408													2	4	---	---	---	---					
